Malformazioni congenite, cromosopatie e sindromi genetiche

Principali pubblicazioni del C.R.R. per le Malformazioni congenite, sindromi genetiche e cromosomopatie

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Area di expertise:

- diagnosi prenatale in gravidanze a rischio

- malformazioni congenite, sindromi genetiche e cromosomopatie

PRINCIPALI PUBBLICAZIONI (2020-2022)

Dong X, Tan NB, Howell KB, Barresi S, Freeman JL, Vecchio D, Piccione M, Radio FC, Calame D, Zong S, Eggers S, Scheffer IE, Tan TY, Van Bergen NJ, Tartaglia M, Christodoulou J, White SM. Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification. Am J Hum Genet. 2020 Apr 2;106(4):559-569. doi: 10.1016/j.ajhg.2020.02.014. Epub 2020 Mar 19. PMID: 32197075; PMCID: PMC7118692.
Mercadante F, Busè M, Salzano E, Fragapane T, Palazzo D, Malacarne M, Piccione M. 12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature. Ital J Pediatr. 2020 Jul 28;46(1):108. doi: 10.1186/s13052-020-00866-9. PMID: 32723361; PMCID: PMC7389890.
Squeo GM, Augello B, Massa V, Milani D, Colombo EA, Mazza T, Castellana S, Piccione M, Maitz S, Petracca A, Prontera P, Accadia M, Della Monica M, Di Giacomo MC, Melis D, Selicorni A, Giglio S, Fischetto R, Di Fede E, Malerba N, Russo M, Castori M, Gervasini C, Merla G. Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder. J Med Genet. 2020 Nov;57(11):760-768. doi: 10.1136/jmedgenet-2019-106724. Epub 2020 Mar 13. PMID: 32170002.
Pavone P, Pappalardo XG, Marino SD, Sciuto L, Corsello G, Ruggieri M, Parano E, Piccione M, Falsaperla R. A novel GABRB3 variant in Dravet syndrome: Case report and literature review. Mol Genet Genomic Med. 2020 Nov;8(11):e1461. doi: 10.1002/mgg3.1461. Epub 2020 Sep 18. PMID: 32945607; PMCID: PMC7667356.
Balistreri CR, Ammoscato CL, Scola L, Fragapane T, Giarratana RM, Lio D, Piccione M. Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA Genes. Genes (Basel). 2020 Nov 28;11(12):1428. doi: 10.3390/genes11121428. PMID: 33260695; PMCID: PMC7761327.
Di Fede E, Massa V, Augello B, Squeo G, Scarano E, Perri AM, Fischetto R, Causio FA, Zampino G, Piccione M, Curridori E, Mazza T, Castellana S, Larizza L, Ghelma F, Colombo EA, Gandini MC, Castori M, Merla G, Milani D, Gervasini C. Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes. Eur J Hum Genet. 2021 Jan;29(1):88-98. doi: 10.1038/s41431-020-0679-8. Epub 2020 Jul 8. PMID: 32641752; PMCID: PMC7852672
Spataro, I.A., Gambino, G., Piccione, M.Autism spectrum disorders (ASD): An early diagnosis in the first year of life | [Diagnosi precoce nel primo anno di vita dei disturbi dello spettro autistico (ASD)]Quaderni ACP 28(3), pp. 119, 2021
Latorre-Pellicer A, Gil-Salvador M, Parenti I, Lucia-Campos C, Trujillano L, Marcos-Alcalde I, Arnedo M, Ascaso Á, Ayerza-Casas A, Antoñanzas-Pérez R, Gervasini C, Piccione M, Mariani M, Weber A, Kanber D, Kuechler A, Munteanu M, Khuller K, Bueno-Lozano G, Puisac B, Gómez-Puertas P, Selicorni A, Kaiser FJ, Ramos FJ, Pié J. Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood. Sci Rep. 2021 Jul 29;11(1):15459. doi: 10.1038/s41598-021-94958-z. PMID: 34326454; PMCID: PMC8322329.
Kerkhof J, Squeo GM, McConkey H, Levy MA, Piemontese MR, Castori M, Accadia M, Biamino E, Della Monica M, Di Giacomo MC, Gervasini C, Maitz S, Melis D, Milani D, Piccione M, Prontera P, Selicorni A, Sadikovic B, Merla G. DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies. Genet Med. 2022 Jan;24(1):51-60. doi: 10.1016/j.gim.2021.08.007. Epub 2021 Nov 30. PMID: 34906459.
Giambona A, Vinciguerra M, Leto F, Cassarà F, Cucinella G, Cigna V, Orlandi E, Piccione M, Picciotto F, Maggio A. Very early prenatal diagnosis of Cockayne's syndrome by coelocentesis. J Obstet Gynaecol. 2022 Jan 10:1-8. doi: 10.1080/01443615.2021.2014429. Epub ahead of print. PMID: 35006018.
Foroutan A, Haghshenas S, Bhai P, Levy MA, Kerkhof J, McConkey H, Niceta M, Ciolfi A, Pedace L, Miele E, Genevieve D, Heide S, Alders M, Zampino G, Merla G, Fradin M, Bieth E, Bonneau D, Dieterich K, Fergelot P, Schaefer E, Faivre L, Vitobello A, Maitz S, Fischetto R, Gervasini C, Piccione M, van de Laar I, Tartaglia M, Sadikovic B, Lebre AS. Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome. Int J Mol Sci. 2022 Feb 5;23(3):1815. doi: 10.3390/ijms23031815. PMID: 35163737; PMCID: PMC8836705.
Poeta L, Malacarne M, Padula A, Drongitis D, Verrillo L, Lioi MB, Chiariello AM, Bianco S, Nicodemi M, Piccione M, Salzano E, Coviello D, Miano MG. Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability. Int J Mol Sci. 2022 Mar 13;23(6):3084. doi: 10.3390/ijms23063084. PMID: 35328505; PMCID: PMC8955779.
Recalcati MP, Catusi I, Garzo M, Redaelli S, Massimello M, Maitz SB, Gentile M, Ponzi E, Orsini P, Zilio A, Montaldi A, Calò A, Capra AP, Briuglia S, La Rosa MA, Grillo L, Romano C, Bianca S, Malacarne M, Busè M, Piccione M, Larizza L. 12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature. Genes (Basel). 2022 Apr 27;13(5):780. doi: 10.3390/genes13050780. PMID: 35627165; PMCID: PMC9141874.
Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Palomares Bralo M, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Hum Mutat. 2022 Jul 29. doi: 10.1002/humu.24446. Epub ahead of print. PMID: 35904121

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome (2022) Italian Journal of Pediatrics, 48 (1), art. no. 170, .
Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis (2022) Italian Journal of Pediatrics, 48 (1), art. no. 145, .
Quality of life improving after propranolol treatment in patients with Infantile Hemangiomas (2022) Italian Journal of Pediatrics, 48 (1), art. no. 140, .
Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder (2022) Italian Journal of Pediatrics, 48 (1), art. no. 132, .
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene (2022) Italian Journal of Pediatrics, 48 (1), art. no. 133, .
Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene (2022) Italian Journal of Pediatrics, 48 (1), art. no. 65, .
Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles (2022) Italian Journal of Pediatrics, 48 (1), art. no. 38, .
Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report (2022) Italian Journal of Pediatrics, 48 (1), art. no. 19, .
Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit (2022) Frontiers in Molecular Biosciences, 9, art. no. 887336, .
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review (2022) Molecular Genetics and Genomic Medicine, 10 (5), art. no. e1911, .
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis (2022) Journal of Medical Genetics, 59 (2), pp. 170-179.
A refugee newborn with heart failure and initial hydrops: Diagnostic clues of spectral Doppler examinations (2022) Journal of Paediatrics and Child Health, .
Clinical and genetic approach in the characterization of newborns with anorectal malformation (2022) Journal of Maternal-Fetal and Neonatal Medicine, 35 (23), pp. 4513-4520.
Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up (2021) Italian Journal of Pediatrics, 47 (1), art. no. 196, .
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients (2021) Italian Journal of Pediatrics, 47 (1), art. no. 147, .
Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents’ associations (2021) Italian Journal of Pediatrics, 47 (1), art. no. 94, .
2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype (2021) Clinical Case Reports, 9 (6), art. no. e04289, .
Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome (2020) Italian Journal of Pediatrics, 46 (1), art. no. 154, .
A novel cct5 missense variant associated with early onset motor neuropathy (2020) International Journal of Molecular Sciences, 21 (20), art. no. 7631, pp. 1-12.
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient (2020) Italian Journal of Pediatrics, 46 (1), art. no. 140, .
Neonatal hyperinsulinemic hypoglycemia: Case report of kabuki syndrome due to a novel KMT2D splicing-site mutation (2020) Italian Journal of Pediatrics, 46 (1), art. no. 136, .
Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: A case report (2020) Italian Journal of Pediatrics, 46 (1), art. no. 135, .
What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs. (2020) Italian Journal of Pediatrics, 46 (1), art. no. 98, .
A refugee newborn with heart failure and initial hydrops: Diagnostic clues of spectral Doppler examinations (2020) Journal of Paediatrics and Child Health, 56 (8), p. 1315.
Growth patterns and associated risk factors of congenital malformations in twins (2020) Italian Journal of Pediatrics, 46 (1), art. no. 73, .
Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital (2020) Italian Journal of Pediatrics, 46 (1), art. no. 72, .
Recognizable neonatal clinical features of aplasia cutis congenita (2020) Italian Journal of Pediatrics, 46 (1), art. no. 25, .
Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation (2020) Early Human Development, 141, art. no. 104945, .
Large for gestational age, macrosomia, overgrowth: An update on definitions and determinants (2020) EuroMediterranean Biomedical Journal, 15 (29), pp. 116-120.

Articoli su iris.unipa.it inerenti le Malformazioni congenite, sindromi genetiche e cromosomopatie

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Arnold-Chiari sindrome di	Arnold-Chiari syndrome
Microcefalia isolata o sindromica	Isolated or syndromic microcephaly
Agenesia cerebellare	Cerebellar agenesis
Joubert sindrome di	Joubert syndrome
Lissencefalia isolata o sindromica	Isolated or syndromic lissencephaly
Oloprosencefalia isolata o sindromica	Isolated or syndromic holoprosencephaly
Agenesia/disgenesia del corpo calloso in forma isolata o sindromica	Isolated or syndromic agenesis/dysgenesis of the corpus callosum
Andermann sindrome di	Andermann syndrome
Dandy-Walker sindrome di	Dandy-Walker syndrome
Aase-Smith sindrome di	Aase-Smith syndrome
Neuroacantocitosi	Neuroacanthocytosis
Sindrome acrocallosa	Acrocallosal syndrome
Walker-Warburg sindrome di	Walker-Warburg syndrome
Ben Ari-Shuper-Mimouni sindrome di	Ben Ari-Shuper-Mimouni syndrome
Bonnemann-Meinecke sindrome di	Bonnemann-Meinecke syndrome
Displasia cerebro-facio-toracica	Cerebrofaciothoracic dysplasia
Sindrome idroletale	Hydrolethal syndrome
TorielloC arey sindrome di	TorielloC arey syndrome
Gerstmann sindrome di	Gerstmann syndrome
Lenz sindrome di	Lenz syndrome
Sindrome anoftalmia plus	Anophthalmia plus syndrome
Foix-Chavany-Marie sindrome di	Foix-Chavany-Marie syndrome
Axenfeld-Rieger anomalia di	Axenfeld-Rieger anomaly of
Axenfeld-Rieger sindrome di	Axenfeld-Rieger syndrome
Peters anomalia di	Peters anomaly of
Aniridia	Aniridia
Coloboma congenito oculare isolato o sindromico	Isolated or syndromic congenital ocular coloboma
Coloboma congenito corioretinico	Congenital chorioretinal coloboma
Coloboma congenito dell’iride	Congenital coloboma of the iris
Coloboma congenito del disco ottico	Congenital coloboma of the optic disc
Morning glory anomalia di	Morning glory anomaly of
Persistenza della membrana pupillare	Persistence of the pupillary membrane
Norrie malattia di	Norrie's disease
Vogt-Koyanagi-Harada sindrome di	Vogt-Koyanagi-Harada syndrome
Displasia setto-ottica	Septo-optic dysplasia
Fraser sindrome di	Fraser syndrome
Weill-Marchesani sindrome di	Weill-Marchesani syndrome
Aicardi sindrome di	Aicardi syndrome
Baraitser-Winter sindrome di	Baraitser-Winter syndrome
Nance-Horan sindrome di	Nance-Horan syndrome
Sindrome cerebrooculo-nasale	Cerebrooculonasal syndrome
Sindrome CODAS	CODAS syndrome
Sindromi con craniosinostosi	Syndromes with craniosynostosis
Acrocefalosindattilia	Acrocephalosyndactyly
Apert sindrome di	Open syndrome
C sindrome	C syndrome
Goodman sindrome di	Goodman syndrome
Hallerman-Streiff sindrome di	Hallerman-Streiff syndrome
Pierre-Robin sindrome di	Pierre-Robin syndrome
Treacher-Collins sindrome di	Treacher-Collins syndrome
Antley-Bixler sindrome di	Antley-Bixler syndrome
Baller-Gerold sindrome di	Baller-Gerold syndrome
Carpenter sindrome di	Carpenter syndrome
Pfeiffer sindrome di	Pfeiffer syndrome
Summitt sindrome di	Summitt syndrome
Jackson-Weiss sindrome di	Jackson-Weiss syndrome
Nager sindrome di	Nager syndrome
Cranio-fronto-nasale sindrome	Craniofrontonasal syndrome
Craniosinostosi primaria	Primary craniosynostosis
Crouzon malattia di	Crouzon's disease
Disostosi cleidocranica	Cleidocranial dysostosis
Disostosi mandibolofacciale	Mandibulofacial dysostosis
Disostosi maxillofacciale	Maxillofacial dysostosis
Displasia frontofacionasale	Frontofaceonasal dysplasia
Displasia mandibolo-acrale	Mandibulacral dysplasia
Displasia maxillonasale	Maxillonasal dysplasia
Palatoschisi isolata o sindromica	Isolated or syndromic cleft palate
Mohr malattia di	Mohr's disease
Moebius sindrome di	Moebius syndrome
Oculofaciocardiodentale sindrome	Oculofaciocardiodental syndrome
Oro-facio-digitale sindrome di tipo 1	Oro-facio-digitalis syndrome type 1
Schinzel-Giedion sindrome di	Schinzel-Giedion syndrome
Goldenhar sindrome di	Goldenhar syndrome
Sindrome cefalopolisindattilia di Greig	Greig's cephalopolysyndactyly syndrome
Sindrome oto-palato-digitale	Oto-palato-digital syndrome
Focomelia	Phocomelia
Deformità di Sprengel	Sprengel deformity
Camptodattilia familiare	Familial camptodactyly
Poland sindrome di	Poland syndrome
Sindrome femoro-facciale	Femoral facial syndrome
Sindromi con artrogriposi multiple congenite	Syndromes with congenital arthrogryposis multiplex
Roberts sindrome di	Roberts syndrome
Sindrome trisma pseudocamptodattilia	Trismus pseudocamptodactyly syndrome
Freeman-Sheldon sindrome di	Freeman-Sheldon syndrome
Sequenza da ipocinesia fetale	Sequence from fetal hypokinesia
Sindrome da pterigi multipli	Multiple pterygia syndrome
principale	principal
Sindrome RAPADILINO	RAPADILINO syndrome
Sequenza sirenomelica	Sirenomela sequence
Adams-Oliver sindrome di	Adams-Oliver syndrome
Sindrome trombocitopenica con aplasia del radio	Thrombocytopenic syndrome with radial aplasia
Cuore criss-cross	Criss cross heart
Ebstein anomalia di	Ebstein anomaly of
Sindrome del cuore sinistro ipoplasico	Hypoplastic left heart syndrome
Blue rubber bleb nevus	Blue rubber bleb nevus
Ivemark sindrome di	Ivemark syndrome
Klippel-Trenaunay sindrome di	Klippel-Trenaunay syndrome
Aneurisma della vena di Galeno	Aneurysm of the vein of Galen
Malformazione arterovenosa cerebrale	Cerebral arteriovenous malformation
Malformazione cavernosa cerebrale ereditaria	Hereditary cerebral cavernous malformation
Malformazione cranica del seno durale	Cranial malformation of the dural sinus
Sindrome CLOVE	CLOVE syndrome
Sindrome con malformazione dei capillari e malformazione arterovenosa (CMAVM)	Capillary malformation arteriovenous malformation syndrome (MAVM)
Sindrome metamerica arterovenosa cerebrofacciale	Cerebrofacial arteriovenous metameric syndrome
Klippel-Feil sindrome di	Klippel-Feil syndrome
Gastroschisi	Gastroschisis
Sindrome Prune Belly	Prune Belly Syndrome
Onfalocele	Omphalocele
Pentalogia di Cantrell	Cantrell pentalogy
Malformazione ano-rettale in forma isolata o sindromica	Anorectal malformation in isolated or syndromic form
Hirschsprung malattia di	Hirschsprung's disease
Goldberg-Shprintzen sindrome di	Goldberg-Shprintzen syndrome
Atresia biliare	Biliary atresia
Caroli malattia di	Caroli's disease
Malattia del fegato policistico	Polycystic liver disease
Atresia ileale	Ileal atresia
Atresia colica	Colic atresia
Atresia intestinale multipla	Multiple intestinal atresia
Cloaca persistente	Persistent cloaca
Duplicazioni del tubo digerente	Duplications of the digestive tract
Complesso OEIS	OEIS complex
Atresia esofagea e/o fistola – tracheoesofagea	Esophageal atresia and/or tracheoesophageal fistula
Atresia del digiuno	Fasting atresia
Atresia o stenosi duodenale	Atresia or duodenal stenosis
Ipoplasia/Aplasia della muscolatura della parete gastrica	Hypoplasia/Aplasia of the muscles of the gastric wall
Microgastria	Microgastria
Sindrome dell’intestino corto congenito	Congenital short bowel syndrome
Rene con midollare a spugna	Kidney with medullary sponge
Malattia renale cistica genetica	Genetic cystic kidney disease (excluded: autosomal dominant polycystic kidney)
Senior-Loken sindrome di	Senior-Loken syndrome
Rene policistico autosomico recessivo	Autosomal recessive polycystic kidney disease
Meckel sindrome di	Meckel syndrome
Estrofia vescicale	Bladder exstrophy
Gonadico e/o fenotipo	Gonadal and/or phenotype
Disgenesia gonadica	gonadal dysgenesis
Perrault sindrome di	Perrault syndrome
Sindrome da insensibilità completa agli androgeni	Complete androgen insensitivity syndrome
Sindrome da insensibilità parziale agli androgeni	Partial androgen insensitivity syndrome
Pseudoermafroditismi	Pseudohermaphroditism
Denys Drash sindrome di	Denys Drash Syndrome
Ermafroditismo vero	True hermaphroditism
cariotipo/sviluppo gonadico e/o fenotipo	karyotype/gonadal development and/or phenotype
Frasier sindrome di	Frasier syndrome
Sindrome SERKAL	SERKAL syndrome
Afallia	Afallia
Epispadia	Epispadias
Megalouretra	Megalourethra
Mayer Rokitansky Kuster Hauser sindrome di	Mayer Rokitansky Kuster Hauser syndrome
Acrodisostosi	Acrodysostosis
Sindrome da regressione caudale	Caudal regression syndrome
Acondrogenesi	Achondrogenesis
Acondroplasia	Achondroplasia
Condrodisplasia letale	Lethal chondrodysplasia
Condrodisplasia metafisaria	Metaphyseal chondrodysplasia
Condrodisplasia tipo Blomstrand	Chondrodysplasia Blomstrand type
Condrodistrofia congenita non tipizzata	Untyped congenital chondrodystrophy
Desbuquois sindrome di	Desbuquois syndrome
Displasia acromicrica	Achromic dysplasia
Displasia epifisaria emimelica	Hemimelic epiphyseal dysplasia
Displasia metatropica	Metatropic dysplasia
Displasia otospondilomegaepifisaria	Otospondylomegaepiphyseal dysplasia
Displasia pseudoreumatoide progressiva	Progressive pseudorheumatoid dysplasia
Distrofia toracica asfissiante	Asphyxiating thoracic dystrophy
Encondromatosi multipla	Multiple enchondromatosis
Esostosi multipla	Multiple exostosis
Ipocondroplasia	Hypochondroplasia
Keutel sindrome di	Keutel syndrome
Kniest displasia	Kniest dysplasia
Larsen sindrome di	Larsen syndrome
Schwartz-J ampel sindrome di	Schwartz-J ampel syndrome
Sindrome camptomelica	Camptomelic syndrome
Atelosteogenesi	Atelosteogenesis
Buschke-Ollendorff sindrome di	Buschke-Ollendorff syndrome
Conradi Hunermann Happle sindrome di	Conradi Hunermann Happle syndrome
Discondrosteosi	dyschondrosteosis
Displasia craniometafisaria	Craniometaphyseal dysplasia
Displasia diastrofica e pseudodiastrofica	Diastrophic and pseudodiastrophic dysplasia
Displasia fibrosa	Fibrous dysplasia
Displasia gnatodiafisaria	Gnathodiaphyseal dysplasia
Displasia spondiloepifisaria	Spondyloepiphyseal dysplasia
Displasia spondilometafisaria	Spondylometaphyseal dysplasia
Ellis-van Creveld sindrome di	Ellis-van Creveld syndrome
Engelmann malattia di	Engelmann's disease
Fairbank malattia di	Fairbank's disease
Frank-Ter Haar sindrome di	Frank-Ter Haar Syndrome
Hajdu Cheney sindrome di	Hajdu Cheney syndrome
Mc Cune Albright sindrome di	McCune Albright Syndrome
Osteodistrofia congenita non tipizzata	Untyped congenital osteodystrophy
Osteogenesi imperfetta	Osteogenesis imperfecta
Osteopetrosi	Osteopetrosis
Picnodisostosi	Pycnodysostosis
Sindrome DOOR	DOOR syndrome
Sindrome osteoporosi-pseudoganglioma	Osteoporosis-pseudoganglioma syndrome
Maffucci sindrome di	Maffucci syndrome
Displasia spondiloepifisaria congenita	Congenital spondyloepiphyseal dysplasia
Dyggve Melchior Clausen (DMC ) sindrome di	Dyggve Melchior Clausen (DMC ) syndrome
Jarcho-Levin sindrome di	Jarcho-Levin syndrome
Sindromi da aneuploidia cromosomica	Chromosomal aneuploidy syndromes
Turner sindrome di	Turner syndrome
Pallister-Killian sindrome di	Pallister-Killian syndrome
Sindrome del Cri Du Chat	Cri Du Chat Syndrome
WAGR sindrome di	WAGR syndrome
Williams sindrome di	Williams syndrome
Wolf-Hirschhorn sindrome di	Wolf-Hirschhorn syndrome
Sindrome del cromosoma X fragile	Fragile X chromosome syndrome
Loeys-Dietz sindrome di	Loeys-Dietz syndrome
Shprintzen-Goldberg sindrome di	Shprintzen-Goldberg syndrome
Marfan sindrome di	Marfan syndrome
Ehlers Danlos sindrome di	Ehlers Danlos Syndrome
Stickler sindrome di	Stickler syndrome
Nanismo osteodisplastico microcefalico primitivo (MOPD)	Primary microcephalic osteodysplastic dwarfism (MOPD)
Aarskog sindrome di	Aarskog syndrome
Dubowitz sindrome di	Dubowitz syndrome
Robinow sindrome di	Robinow syndrome
Russell Silver sindrome di	Russell Silver Syndrome
Seckel sindrome di	Seckel syndrome
SHORT sindrome	SHORT syndrome
Emiipertrofia congenita	Congenital hemihypertrophy
Beckwith-Wiedemann sindrome di	Beckwith-Wiedemann syndrome
Sotos sindrome di	Sotos syndrome
Weaver sindrome di	Weaver syndrome
Simpson-Golabi-Behmel sindrome di	Simpson-Golabi-Behmel syndrome
Marshall-Smith sindrome di	Marshall-Smith syndrome
sindromi note)	known syndromes)
Alagille sindrome di	Alagille syndrome
Alstrom sindrome di	Alstrom syndrome
Amartomatosi multiple	Multiple hamartomatosis
Bannayan-Zonana sindrome di	Bannayan-Zonana syndrome
BirtHoggDubè sindrome di	BirtHoggDub's syndrome
Complesso di Von Meyenburg	Von Meyenburg complex
Cowden malattia di	Cowden's disease
Sclerosi tuberosa	Tuberous sclerosis
Peutz-J eghers sindrome di	Peutz-J eghers syndrome
Sturge-Weber sindrome di	Sturge-Weber syndrome
Von Hippel-Lindau sindrome di	Von Hippel-Lindau syndrome
Sindrome proteus	Proteus syndrome
Angelman sindrome di	Angelman syndrome
Associazione VACTERL/VATER	VACTERL/VATER association
Bardet-Biedl sindrome di	Bardet-Biedl syndrome
Bloom sindrome di	Bloom syndrome
Borjeson-Forssman-Lehmann sindrome di	Borjeson-Forssman-Lehmann syndrome
Char sindrome di	Char syndrome
Coffin-Lowry sindrome di	Coffin-Lowry syndrome
Coffin-Siris sindrome di	Coffin-Siris syndrome
Cohen sindrome di	Cohen syndrome
Cornelia De Lange sindrome di	Cornelia De Lange Syndrome
Costello sindrome di	Costello syndrome
Noonan sindrome di	Noonan syndrome
Sindrome cardiofaciocutanea	Cardiofaciocutaneous syndrome
Leopard sindrome	Leopard syndrome
De Sanctis Cacchione malattia di	De Sanctis Cacchione disease of
Displasia oculo-digito-dentale	Oculo-digital-dental dysplasia
Filippi sindrome di	Philippi syndrome
Sindrome FG	FG syndrome
Fine-Lubinsky sindrome di	Fine-Lubinsky syndrome
Fryns sindrome di	Fryns syndrome
Hermansky-Pudlak sindrome di	Hermansky-Pudlak syndrome
Holt-Oram sindrome di	Holt-Oram syndrome
LevyHollister sindrome di	LevyHollister syndrome
Lowe sindrome di	Lowe syndrome
Mainzer-Saldino sindrome di	Mainzer-Saldino syndrome
Marshall sindrome di	Marshall syndrome
Opitz sindrome di	Opitz syndrome
Pallister-Hall sindrome di	Pallister-Hall syndrome
Pallister-W sindrome di	Pallister-W syndrome
Parry-Romberg sindrome di	Parry-Romberg syndrome
Prader-Willi sindrome di	Prader-Willi syndrome
Rubinstein-Taybi sindrome di	Rubinstein-Taybi syndrome
Sindrome branchio-oculo-facciale	Branchio-oculo-facial syndrome
Sindrome branchio-oto-renale	Branchio-oto-renal syndrome
Sindrome cardiofacciale di Cayler	Cayler's cardiofacial syndrome
Sindrome cerebrocostomandibolare	Cerebrocostomandibular syndrome
Sindrome cerebrooculo-facio-scheletrica	Cerebrooculofacioskeletal syndrome
CHARGE associazione	CHARGE association
Sindrome Kabuki	Kabuki syndrome
Sindrome megalocornea-ritardo mentale	Megalocornea-mental retardation syndrome
Sindrome nail-patella	Nail-patella syndrome
Sindrome oculo-cerebro-cutanea	Oculocerebrocutaneous syndrome
Sindromi progeroidi	Progeroid syndromes
Hutchinson-Gilford sindrome di	Hutchinson-Gilford syndrome
Poichiloderma congenito	Congenital poikiloderma
Wiedemann-Rautenstrauch sindrome di	Wiedemann-Rautenstrauch syndrome
Werner sindrome di	Werner syndrome
Cockayne sindrome di	Cockayne syndrome
Sindrome tricorino-falangea	Trichorinophalangeal syndrome
Smith-Magenis sindrome di	Smith-Magenis syndrome
Townes-Brocks sindrome di	Townes-Brocks syndrome
Sindromi di Waardenburg	Waardenburg syndromes
Waandenburg tipo 1 sindrome di	Waandenburg type 1 syndrome
Waandenburg tipo 2 sindrome di	Waandenburg type 2 syndrome
Waandenburg tipo 3 sindrome di	Waandenburg type 3 syndrome
Wildervanck sindrome di	Wildervanck syndrome
Winchester sindrome di	Winchester syndrome
Wolfram sindrome di	Wolfram syndrome

Articoli su pubmed.ncbi.nlm.nih.gov inerenti le Malformazioni congenite, sindromi genetiche e cromosomopatie

Ascolta

Arnold-Chiari sindrome di	Arnold-Chiari syndrome
Microcefalia isolata o sindromica	Isolated or syndromic microcephaly
Agenesia cerebellare	Cerebellar agenesis
Joubert sindrome di	Joubert syndrome
Lissencefalia isolata o sindromica	Isolated or syndromic lissencephaly
Oloprosencefalia isolata o sindromica	Isolated or syndromic holoprosencephaly
Andermann sindrome di	Andermann syndrome
Dandy-Walker sindrome di	Dandy-Walker syndrome
Aase-Smith sindrome di	Aase-Smith syndrome
Neuroacantocitosi	Neuroacanthocytosis
Sindrome acrocallosa	Acrocallosal syndrome
Walker-Warburg sindrome di	Walker-Warburg syndrome
Ben Ari-Shuper-Mimouni sindrome di	Ben Ari-Shuper-Mimouni syndrome
Bonnemann-Meinecke sindrome di	Bonnemann-Meinecke syndrome
Displasia cerebro-facio-toracica	Cerebrofaciothoracic dysplasia
Sindrome idroletale	Hydrolethal syndrome
TorielloC arey sindrome di	TorielloC arey syndrome
Gerstmann sindrome di	Gerstmann syndrome
Lenz sindrome di	Lenz syndrome
Sindrome anoftalmia plus	Anophthalmia plus syndrome
Foix-Chavany-Marie sindrome di	Foix-Chavany-Marie syndrome
Axenfeld-Rieger anomalia di	Axenfeld-Rieger anomaly of
Axenfeld-Rieger sindrome di	Axenfeld-Rieger syndrome
Peters anomalia di	Peters anomaly of
Aniridia	Aniridia
Coloboma congenito corioretinico	Congenital chorioretinal coloboma
Coloboma congenito dell’iride	Congenital coloboma of the iris
Coloboma congenito del disco ottico	Congenital coloboma of the optic disc
Morning glory anomalia di	Morning glory anomaly of
Persistenza della membrana pupillare	Persistence of the pupillary membrane
Norrie malattia di	Norrie's disease
Vogt-Koyanagi-Harada sindrome di	Vogt-Koyanagi-Harada syndrome
Displasia setto-ottica	Septo-optic dysplasia
Fraser sindrome di	Fraser syndrome
Weill-Marchesani sindrome di	Weill-Marchesani syndrome
Aicardi sindrome di	Aicardi syndrome
Baraitser-Winter sindrome di	Baraitser-Winter syndrome
Nance-Horan sindrome di	Nance-Horan syndrome
Sindrome cerebrooculo-nasale	Cerebrooculonasal syndrome
Sindrome CODAS	CODAS syndrome
Acrocefalosindattilia	Acrocephalosyndactyly
Apert sindrome di	Open syndrome
C sindrome	C syndrome
Goodman sindrome di	Goodman syndrome
Hallerman-Streiff sindrome di	Hallerman-Streiff syndrome
Pierre-Robin sindrome di	Pierre-Robin syndrome
Treacher-Collins sindrome di	Treacher-Collins syndrome
Antley-Bixler sindrome di	Antley-Bixler syndrome
Baller-Gerold sindrome di	Baller-Gerold syndrome
Carpenter sindrome di	Carpenter syndrome
Pfeiffer sindrome di	Pfeiffer syndrome
Summitt sindrome di	Summitt syndrome
Jackson-Weiss sindrome di	Jackson-Weiss syndrome
Nager sindrome di	Nager syndrome
Cranio-fronto-nasale sindrome	Craniofrontonasal syndrome
Craniosinostosi primaria	Primary craniosynostosis
Crouzon malattia di	Crouzon's disease
Disostosi cleidocranica	Cleidocranial dysostosis
Disostosi mandibolofacciale	Mandibulofacial dysostosis
Disostosi maxillofacciale	Maxillofacial dysostosis
Displasia frontofacionasale	Frontofaceonasal dysplasia
Displasia mandibolo-acrale	Mandibulacral dysplasia
Displasia maxillonasale	Maxillonasal dysplasia
Palatoschisi isolata o sindromica	Isolated or syndromic cleft palate
Mohr malattia di	Mohr's disease
Moebius sindrome di	Moebius syndrome
Oculofaciocardiodentale sindrome	Oculofaciocardiodental syndrome
Oro-facio-digitale sindrome di tipo 1	Oro-facio-digitalis syndrome type 1
Schinzel-Giedion sindrome di	Schinzel-Giedion syndrome
Goldenhar sindrome di	Goldenhar syndrome
Sindrome cefalopolisindattilia di Greig	Greig's cephalopolysyndactyly syndrome
Sindrome oto-palato-digitale	Oto-palato-digital syndrome
Focomelia	Phocomelia
Deformità di Sprengel	Sprengel deformity
Camptodattilia familiare	Familial camptodactyly
Poland sindrome di	Poland syndrome
Sindrome femoro-facciale	Femoral facial syndrome
Sindromi con artrogriposi multiple congenite	Syndromes with congenital arthrogryposis multiplex
Roberts sindrome di	Roberts syndrome
Sindrome trisma pseudocamptodattilia	Trismus pseudocamptodactyly syndrome
Freeman-Sheldon sindrome di	Freeman-Sheldon syndrome
Sequenza da ipocinesia fetale	Sequence from fetal hypokinesia
Sindrome da pterigi multipli	Multiple pterygia syndrome
Sindrome RAPADILINO	RAPADILINO syndrome
Sequenza sirenomelica	Sirenomela sequence
Adams-Oliver sindrome di	Adams-Oliver syndrome
Sindrome trombocitopenica con aplasia del radio	Thrombocytopenic syndrome with radial aplasia
Cuore criss-cross	Criss cross heart
Ebstein anomalia di	Ebstein anomaly of
Sindrome del cuore sinistro ipoplasico	Hypoplastic left heart syndrome
Blue rubber bleb nevus	Blue rubber bleb nevus
Ivemark sindrome di	Ivemark syndrome
Klippel-Trenaunay sindrome di	Klippel-Trenaunay syndrome
Aneurisma della vena di Galeno	Aneurysm of the vein of Galen
Malformazione arterovenosa cerebrale	Cerebral arteriovenous malformation
Malformazione cavernosa cerebrale ereditaria	Hereditary cerebral cavernous malformation
Malformazione cranica del seno durale	Cranial malformation of the dural sinus
Sindrome CLOVE	CLOVE syndrome
Sindrome con malformazione dei capillari e malformazione arterovenosa (CMAVM)	Capillary malformation arteriovenous malformation syndrome (MAVM)
Sindrome metamerica arterovenosa cerebrofacciale	Cerebrofacial arteriovenous metameric syndrome
Klippel-Feil sindrome di	Klippel-Feil syndrome
Gastroschisi	Gastroschisis
Sindrome Prune Belly	Prune Belly Syndrome
Onfalocele	Omphalocele
Pentalogia di Cantrell	Cantrell pentalogy
Malformazione ano-rettale in forma isolata o sindromica	Anorectal malformation in isolated or syndromic form
Hirschsprung malattia di	Hirschsprung's disease
Goldberg-Shprintzen sindrome di	Goldberg-Shprintzen syndrome
Atresia biliare	Biliary atresia
Caroli malattia di	Caroli's disease
Malattia del fegato policistico	Polycystic liver disease
Atresia ileale	Ileal atresia
Atresia colica	Colic atresia
Atresia intestinale multipla	Multiple intestinal atresia
Cloaca persistente	Persistent cloaca
Duplicazioni del tubo digerente	Duplications of the digestive tract
Complesso OEIS	OEIS complex
Atresia esofagea e/o fistola – tracheoesofagea	Esophageal atresia and/or tracheoesophageal fistula
Atresia del digiuno	Fasting atresia
Atresia o stenosi duodenale	Atresia or duodenal stenosis
Ipoplasia/Aplasia della muscolatura della parete gastrica	Hypoplasia/Aplasia of the muscles of the gastric wall
Microgastria	Microgastria
Sindrome dell’intestino corto congenito	Congenital short bowel syndrome
Rene con midollare a spugna	Kidney with medullary sponge
Malattia renale cistica genetica	Genetic cystic kidney disease
Senior-Loken sindrome di	Senior-Loken syndrome
Rene policistico autosomico recessivo	Autosomal recessive polycystic kidney disease
Meckel sindrome di	Meckel syndrome
Estrofia vescicale	Bladder exstrophy
Gonadico e/o fenotipo	Gonadal and/or phenotype
Disgenesia gonadica	gonadal dysgenesis
Perrault sindrome di	Perrault syndrome
Sindrome da insensibilità completa agli androgeni	Complete androgen insensitivity syndrome
Sindrome da insensibilità parziale agli androgeni	Partial androgen insensitivity syndrome
Pseudoermafroditismi	Pseudohermaphroditism
Denys Drash sindrome di	Denys Drash Syndrome
Ermafroditismo vero	True hermaphroditism
cariotipo/sviluppo gonadico e/o fenotipo	karyotype/gonadal development and/or phenotype
Frasier sindrome di	Frasier syndrome
Sindrome SERKAL	SERKAL syndrome
Afallia	Afallia
Epispadia	Epispadias
Megalouretra	Megalourethra
Mayer Rokitansky Kuster Hauser sindrome di	Mayer Rokitansky Kuster Hauser syndrome
Acrodisostosi	Acrodysostosis
Sindrome da regressione caudale	Caudal regression syndrome
Acondrogenesi	Achondrogenesis
Acondroplasia	Achondroplasia
Condrodisplasia letale	Lethal chondrodysplasia
Condrodisplasia metafisaria	Metaphyseal chondrodysplasia
Condrodisplasia tipo Blomstrand	Chondrodysplasia Blomstrand type
Condrodistrofia congenita non tipizzata	Untyped congenital chondrodystrophy
Desbuquois sindrome di	Desbuquois syndrome
Displasia acromicrica	Achromic dysplasia
Displasia epifisaria emimelica	Hemimelic epiphyseal dysplasia
Displasia metatropica	Metatropic dysplasia
Displasia otospondilomegaepifisaria	Otospondylomegaepiphyseal dysplasia
Displasia pseudoreumatoide progressiva	Progressive pseudorheumatoid dysplasia
Distrofia toracica asfissiante	Asphyxiating thoracic dystrophy
Encondromatosi multipla	Multiple enchondromatosis
Esostosi multipla	Multiple exostosis
Ipocondroplasia	Hypochondroplasia
Keutel sindrome di	Keutel syndrome
Kniest displasia	Kniest dysplasia
Larsen sindrome di	Larsen syndrome
Schwartz-J ampel sindrome di	Schwartz-J ampel syndrome
Sindrome camptomelica	Camptomelic syndrome
Atelosteogenesi	Atelosteogenesis
Buschke-Ollendorff sindrome di	Buschke-Ollendorff syndrome
Conradi Hunermann Happle sindrome di	Conradi Hunermann Happle syndrome
Discondrosteosi	dyschondrosteosis
Displasia craniometafisaria	Craniometaphyseal dysplasia
Displasia diastrofica e pseudodiastrofica	Diastrophic and pseudodiastrophic dysplasia
Displasia fibrosa	Fibrous dysplasia
Displasia gnatodiafisaria	Gnathodiaphyseal dysplasia
Displasia spondiloepifisaria	Spondyloepiphyseal dysplasia
Displasia spondilometafisaria	Spondylometaphyseal dysplasia
Ellis-van Creveld sindrome di	Ellis-van Creveld syndrome
Engelmann malattia di	Engelmann's disease
Fairbank malattia di	Fairbank's disease
Frank-Ter Haar sindrome di	Frank-Ter Haar Syndrome
Hajdu Cheney sindrome di	Hajdu Cheney syndrome
Mc Cune Albright sindrome di	McCune Albright Syndrome
Osteodistrofia congenita non tipizzata	Untyped congenital osteodystrophy
Osteogenesi imperfetta	Osteogenesis imperfecta
Osteopetrosi	Osteopetrosis
Picnodisostosi	Pycnodysostosis
Sindrome DOOR	DOOR syndrome
Sindrome osteoporosi-pseudoganglioma	Osteoporosis-pseudoganglioma syndrome
Maffucci sindrome di	Maffucci syndrome
Displasia spondiloepifisaria congenita	Congenital spondyloepiphyseal dysplasia
Dyggve Melchior Clausen (DMC ) sindrome di	Dyggve Melchior Clausen (DMC ) syndrome
Jarcho-Levin sindrome di	Jarcho-Levin syndrome
Sindromi da aneuploidia cromosomica	Chromosomal aneuploidy syndromes
Turner sindrome di	Turner syndrome
Pallister-Killian sindrome di	Pallister-Killian syndrome
Sindrome del Cri Du Chat	Cri Du Chat Syndrome
WAGR sindrome di	WAGR syndrome
Williams sindrome di	Williams syndrome
Wolf-Hirschhorn sindrome di	Wolf-Hirschhorn syndrome
Sindrome del cromosoma X fragile	Fragile X chromosome syndrome
Loeys-Dietz sindrome di	Loeys-Dietz syndrome
Shprintzen-Goldberg sindrome di	Shprintzen-Goldberg syndrome
Marfan sindrome di	Marfan syndrome
Ehlers Danlos sindrome di	Ehlers Danlos Syndrome
Stickler sindrome di	Stickler syndrome
Nanismo osteodisplastico microcefalico primitivo (MOPD)	Primary microcephalic osteodysplastic dwarfism (MOPD)
Aarskog sindrome di	Aarskog syndrome
Dubowitz sindrome di	Dubowitz syndrome
Robinow sindrome di	Robinow syndrome
Russell Silver sindrome di	Russell Silver Syndrome
Seckel sindrome di	Seckel syndrome
SHORT sindrome	SHORT syndrome
Emiipertrofia congenita	Congenital hemihypertrophy
Beckwith-Wiedemann sindrome di	Beckwith-Wiedemann syndrome
Sotos sindrome di	Sotos syndrome
Weaver sindrome di	Weaver syndrome
Simpson-Golabi-Behmel sindrome di	Simpson-Golabi-Behmel syndrome
Marshall-Smith sindrome di	Marshall-Smith syndrome
sindromi note)	known syndromes)
Alagille sindrome di	Alagille syndrome
Alstrom sindrome di	Alstrom syndrome
Amartomatosi multiple	Multiple hamartomatosis
Bannayan-Zonana sindrome di	Bannayan-Zonana syndrome
BirtHoggDubè sindrome di	BirtHoggDub's syndrome
Complesso di Von Meyenburg	Von Meyenburg complex
Cowden malattia di	Cowden's disease
Sclerosi tuberosa	Tuberous sclerosis
Peutz-J eghers sindrome di	Peutz-J eghers syndrome
Sturge-Weber sindrome di	Sturge-Weber syndrome
Von Hippel-Lindau sindrome di	Von Hippel-Lindau syndrome
Sindrome proteus	Proteus syndrome
Angelman sindrome di	Angelman syndrome
Associazione VACTERL/VATER	VACTERL/VATER association
Bardet-Biedl sindrome di	Bardet-Biedl syndrome
Bloom sindrome di	Bloom syndrome
Borjeson-Forssman-Lehmann sindrome di	Borjeson-Forssman-Lehmann syndrome
Char sindrome di	Char syndrome
Coffin-Lowry sindrome di	Coffin-Lowry syndrome
Coffin-Siris sindrome di	Coffin-Siris syndrome
Cohen sindrome di	Cohen syndrome
Cornelia De Lange sindrome di	Cornelia De Lange Syndrome
Costello sindrome di	Costello syndrome
Noonan sindrome di	Noonan syndrome
Sindrome cardiofaciocutanea	Cardiofaciocutaneous syndrome
Leopard sindrome	Leopard syndrome
De Sanctis Cacchione malattia di	De Sanctis Cacchione disease of
Displasia oculo-digito-dentale	Oculo-digital-dental dysplasia
Filippi sindrome di	Philippi syndrome
Sindrome FG	FG syndrome
Fine-Lubinsky sindrome di	Fine-Lubinsky syndrome
Fryns sindrome di	Fryns syndrome
Hermansky-Pudlak sindrome di	Hermansky-Pudlak syndrome
Holt-Oram sindrome di	Holt-Oram syndrome
LevyHollister sindrome di	LevyHollister syndrome
Lowe sindrome di	Lowe syndrome
Mainzer-Saldino sindrome di	Mainzer-Saldino syndrome
Marshall sindrome di	Marshall syndrome
Opitz sindrome di	Opitz syndrome
Pallister-Hall sindrome di	Pallister-Hall syndrome
Pallister-W sindrome di	Pallister-W syndrome
Parry-Romberg sindrome di	Parry-Romberg syndrome
Prader-Willi sindrome di	Prader-Willi syndrome
Rubinstein-Taybi sindrome di	Rubinstein-Taybi syndrome
Sindrome branchio-oculo-facciale	Branchio-oculo-facial syndrome
Sindrome branchio-oto-renale	Branchio-oto-renal syndrome
Sindrome cardiofacciale di Cayler	Cayler's cardiofacial syndrome
Sindrome cerebrocostomandibolare	Cerebrocostomandibular syndrome
Sindrome cerebrooculo-facio-scheletrica	Cerebrooculofacioskeletal syndrome
CHARGE associazione	CHARGE association
Sindrome Kabuki	Kabuki syndrome
Sindrome megalocornea-ritardo mentale	Megalocornea-mental retardation syndrome
Sindrome nail-patella	Nail-patella syndrome
Sindrome oculo-cerebro-cutanea	Oculocerebrocutaneous syndrome
Sindromi progeroidi	Progeroid syndromes
Hutchinson-Gilford sindrome di	Hutchinson-Gilford syndrome
Poichiloderma congenito	Congenital poikiloderma
Wiedemann-Rautenstrauch sindrome di	Wiedemann-Rautenstrauch syndrome
Werner sindrome di	Werner syndrome
Cockayne sindrome di	Cockayne syndrome
Sindrome tricorino-falangea	Trichorinophalangeal syndrome
Smith-Magenis sindrome di	Smith-Magenis syndrome
Townes-Brocks sindrome di	Townes-Brocks syndrome
Sindromi di Waardenburg	Waardenburg syndromes
Waandenburg tipo 1 sindrome di	Waandenburg type 1 syndrome
Waandenburg tipo 2 sindrome di	Waandenburg type 2 syndrome
Waandenburg tipo 3 sindrome di	Waandenburg type 3 syndrome
Wildervanck sindrome di	Wildervanck syndrome
Winchester sindrome di	Winchester syndrome
Wolfram sindrome di	Wolfram syndrome

Articoli su onlinelibrary.wiley.com inerenti le Malformazioni congenite, sindromi genetiche e cromosomopatie

Ascolta

Arnold-Chiari sindrome di	Arnold-Chiari syndrome
Microcefalia isolata o sindromica	Isolated or syndromic microcephaly
Agenesia cerebellare	Cerebellar agenesis
Joubert sindrome di	Joubert syndrome
Lissencefalia isolata o sindromica	Isolated or syndromic lissencephaly
Oloprosencefalia isolata o sindromica	Isolated or syndromic holoprosencephaly
Andermann sindrome di	Andermann syndrome
Dandy-Walker sindrome di	Dandy-Walker syndrome
Aase-Smith sindrome di	Aase-Smith syndrome
Neuroacantocitosi	Neuroacanthocytosis
Sindrome acrocallosa	Acrocallosal syndrome
Walker-Warburg sindrome di	Walker-Warburg syndrome
Ben Ari-Shuper-Mimouni sindrome di	Ben Ari-Shuper-Mimouni syndrome
Bonnemann-Meinecke sindrome di	Bonnemann-Meinecke syndrome
Displasia cerebro-facio-toracica	Cerebrofaciothoracic dysplasia
Sindrome idroletale	Hydrolethal syndrome
TorielloC arey sindrome di	TorielloC arey syndrome
Gerstmann sindrome di	Gerstmann syndrome
Lenz sindrome di	Lenz syndrome
Sindrome anoftalmia plus	Anophthalmia plus syndrome
Foix-Chavany-Marie sindrome di	Foix-Chavany-Marie syndrome
Axenfeld-Rieger anomalia di	Axenfeld-Rieger anomaly of
Axenfeld-Rieger sindrome di	Axenfeld-Rieger syndrome
Peters anomalia di	Peters anomaly of
Aniridia	Aniridia
Coloboma congenito corioretinico	Congenital chorioretinal coloboma
Coloboma congenito dell’iride	Congenital coloboma of the iris
Coloboma congenito del disco ottico	Congenital coloboma of the optic disc
Morning glory anomalia di	Morning glory anomaly of
Persistenza della membrana pupillare	Persistence of the pupillary membrane
Norrie malattia di	Norrie's disease
Vogt-Koyanagi-Harada sindrome di	Vogt-Koyanagi-Harada syndrome
Displasia setto-ottica	Septo-optic dysplasia
Fraser sindrome di	Fraser syndrome
Weill-Marchesani sindrome di	Weill-Marchesani syndrome
Aicardi sindrome di	Aicardi syndrome
Baraitser-Winter sindrome di	Baraitser-Winter syndrome
Nance-Horan sindrome di	Nance-Horan syndrome
Sindrome cerebrooculo-nasale	Cerebrooculonasal syndrome
Sindrome CODAS	CODAS syndrome
Acrocefalosindattilia	Acrocephalosyndactyly
Apert sindrome di	Open syndrome
C sindrome	C syndrome
Goodman sindrome di	Goodman syndrome
Hallerman-Streiff sindrome di	Hallerman-Streiff syndrome
Pierre-Robin sindrome di	Pierre-Robin syndrome
Treacher-Collins sindrome di	Treacher-Collins syndrome
Antley-Bixler sindrome di	Antley-Bixler syndrome
Baller-Gerold sindrome di	Baller-Gerold syndrome
Carpenter sindrome di	Carpenter syndrome
Pfeiffer sindrome di	Pfeiffer syndrome
Summitt sindrome di	Summitt syndrome
Jackson-Weiss sindrome di	Jackson-Weiss syndrome
Nager sindrome di	Nager syndrome
Cranio-fronto-nasale sindrome	Craniofrontonasal syndrome
Craniosinostosi primaria	Primary craniosynostosis
Crouzon malattia di	Crouzon's disease
Disostosi cleidocranica	Cleidocranial dysostosis
Disostosi mandibolofacciale	Mandibulofacial dysostosis
Disostosi maxillofacciale	Maxillofacial dysostosis
Displasia frontofacionasale	Frontofaceonasal dysplasia
Displasia mandibolo-acrale	Mandibulacral dysplasia
Displasia maxillonasale	Maxillonasal dysplasia
Palatoschisi isolata o sindromica	Isolated or syndromic cleft palate
Mohr malattia di	Mohr's disease
Moebius sindrome di	Moebius syndrome
Oculofaciocardiodentale sindrome	Oculofaciocardiodental syndrome
Oro-facio-digitale sindrome di tipo 1	Oro-facio-digitalis syndrome type 1
Schinzel-Giedion sindrome di	Schinzel-Giedion syndrome
Goldenhar sindrome di	Goldenhar syndrome
Sindrome cefalopolisindattilia di Greig	Greig's cephalopolysyndactyly syndrome
Sindrome oto-palato-digitale	Oto-palato-digital syndrome
Focomelia	Phocomelia
Deformità di Sprengel	Sprengel deformity
Camptodattilia familiare	Familial camptodactyly
Poland sindrome di	Poland syndrome
Sindrome femoro-facciale	Femoral facial syndrome
Sindromi con artrogriposi multiple congenite	Syndromes with congenital arthrogryposis multiplex
Roberts sindrome di	Roberts syndrome
Sindrome trisma pseudocamptodattilia	Trismus pseudocamptodactyly syndrome
Freeman-Sheldon sindrome di	Freeman-Sheldon syndrome
Sequenza da ipocinesia fetale	Sequence from fetal hypokinesia
Sindrome da pterigi multipli	Multiple pterygia syndrome
Sindrome RAPADILINO	RAPADILINO syndrome
Sequenza sirenomelica	Sirenomela sequence
Adams-Oliver sindrome di	Adams-Oliver syndrome
Sindrome trombocitopenica con aplasia del radio	Thrombocytopenic syndrome with radial aplasia
Cuore criss-cross	Criss cross heart
Ebstein anomalia di	Ebstein anomaly of
Sindrome del cuore sinistro ipoplasico	Hypoplastic left heart syndrome
Blue rubber bleb nevus	Blue rubber bleb nevus
Ivemark sindrome di	Ivemark syndrome
Klippel-Trenaunay sindrome di	Klippel-Trenaunay syndrome
Aneurisma della vena di Galeno	Aneurysm of the vein of Galen
Malformazione arterovenosa cerebrale	Cerebral arteriovenous malformation
Malformazione cavernosa cerebrale ereditaria	Hereditary cerebral cavernous malformation
Malformazione cranica del seno durale	Cranial malformation of the dural sinus
Sindrome CLOVE	CLOVE syndrome
Sindrome con malformazione dei capillari e malformazione arterovenosa (CMAVM)	Capillary malformation arteriovenous malformation syndrome (MAVM)
Sindrome metamerica arterovenosa cerebrofacciale	Cerebrofacial arteriovenous metameric syndrome
Klippel-Feil sindrome di	Klippel-Feil syndrome
Gastroschisi	Gastroschisis
Sindrome Prune Belly	Prune Belly Syndrome
Onfalocele	Omphalocele
Pentalogia di Cantrell	Cantrell pentalogy
Malformazione ano-rettale in forma isolata o sindromica	Anorectal malformation in isolated or syndromic form
Hirschsprung malattia di	Hirschsprung's disease
Goldberg-Shprintzen sindrome di	Goldberg-Shprintzen syndrome
Atresia biliare	Biliary atresia
Caroli malattia di	Caroli's disease
Malattia del fegato policistico	Polycystic liver disease
Atresia ileale	Ileal atresia
Atresia colica	Colic atresia
Atresia intestinale multipla	Multiple intestinal atresia
Cloaca persistente	Persistent cloaca
Duplicazioni del tubo digerente	Duplications of the digestive tract
Complesso OEIS	OEIS complex
Atresia esofagea e/o fistola – tracheoesofagea	Esophageal atresia and/or tracheoesophageal fistula
Atresia del digiuno	Fasting atresia
Atresia o stenosi duodenale	Atresia or duodenal stenosis
Ipoplasia/Aplasia della muscolatura della parete gastrica	Hypoplasia/Aplasia of the muscles of the gastric wall
Microgastria	Microgastria
Sindrome dell’intestino corto congenito	Congenital short bowel syndrome
Rene con midollare a spugna	Kidney with medullary sponge
Malattia renale cistica genetica	Genetic cystic kidney disease
Senior-Loken sindrome di	Senior-Loken syndrome
Rene policistico autosomico recessivo	Autosomal recessive polycystic kidney disease
Meckel sindrome di	Meckel syndrome
Estrofia vescicale	Bladder exstrophy
Gonadico e/o fenotipo	Gonadal and/or phenotype
Disgenesia gonadica	gonadal dysgenesis
Perrault sindrome di	Perrault syndrome
Sindrome da insensibilità completa agli androgeni	Complete androgen insensitivity syndrome
Sindrome da insensibilità parziale agli androgeni	Partial androgen insensitivity syndrome
Pseudoermafroditismi	Pseudohermaphroditism
Denys Drash sindrome di	Denys Drash Syndrome
Ermafroditismo vero	True hermaphroditism
cariotipo/sviluppo gonadico e/o fenotipo	karyotype/gonadal development and/or phenotype
Frasier sindrome di	Frasier syndrome
Sindrome SERKAL	SERKAL syndrome
Afallia	Afallia
Epispadia	Epispadias
Megalouretra	Megalourethra
Mayer Rokitansky Kuster Hauser sindrome di	Mayer Rokitansky Kuster Hauser syndrome
Acrodisostosi	Acrodysostosis
Sindrome da regressione caudale	Caudal regression syndrome
Acondrogenesi	Achondrogenesis
Acondroplasia	Achondroplasia
Condrodisplasia letale	Lethal chondrodysplasia
Condrodisplasia metafisaria	Metaphyseal chondrodysplasia
Condrodisplasia tipo Blomstrand	Chondrodysplasia Blomstrand type
Condrodistrofia congenita non tipizzata	Untyped congenital chondrodystrophy
Desbuquois sindrome di	Desbuquois syndrome
Displasia acromicrica	Achromic dysplasia
Displasia epifisaria emimelica	Hemimelic epiphyseal dysplasia
Displasia metatropica	Metatropic dysplasia
Displasia otospondilomegaepifisaria	Otospondylomegaepiphyseal dysplasia
Displasia pseudoreumatoide progressiva	Progressive pseudorheumatoid dysplasia
Distrofia toracica asfissiante	Asphyxiating thoracic dystrophy
Encondromatosi multipla	Multiple enchondromatosis
Esostosi multipla	Multiple exostosis
Ipocondroplasia	Hypochondroplasia
Keutel sindrome di	Keutel syndrome
Kniest displasia	Kniest dysplasia
Larsen sindrome di	Larsen syndrome
Schwartz-J ampel sindrome di	Schwartz-J ampel syndrome
Sindrome camptomelica	Camptomelic syndrome
Atelosteogenesi	Atelosteogenesis
Buschke-Ollendorff sindrome di	Buschke-Ollendorff syndrome
Conradi Hunermann Happle sindrome di	Conradi Hunermann Happle syndrome
Discondrosteosi	dyschondrosteosis
Displasia craniometafisaria	Craniometaphyseal dysplasia
Displasia diastrofica e pseudodiastrofica	Diastrophic and pseudodiastrophic dysplasia
Displasia fibrosa	Fibrous dysplasia
Displasia gnatodiafisaria	Gnathodiaphyseal dysplasia
Displasia spondiloepifisaria	Spondyloepiphyseal dysplasia
Displasia spondilometafisaria	Spondylometaphyseal dysplasia
Ellis-van Creveld sindrome di	Ellis-van Creveld syndrome
Engelmann malattia di	Engelmann's disease
Fairbank malattia di	Fairbank's disease
Frank-Ter Haar sindrome di	Frank-Ter Haar Syndrome
Hajdu Cheney sindrome di	Hajdu Cheney syndrome
Mc Cune Albright sindrome di	McCune Albright Syndrome
Osteodistrofia congenita non tipizzata	Untyped congenital osteodystrophy
Osteogenesi imperfetta	Osteogenesis imperfecta
Osteopetrosi	Osteopetrosis
Picnodisostosi	Pycnodysostosis
Sindrome DOOR	DOOR syndrome
Sindrome osteoporosi-pseudoganglioma	Osteoporosis-pseudoganglioma syndrome
Maffucci sindrome di	Maffucci syndrome
Displasia spondiloepifisaria congenita	Congenital spondyloepiphyseal dysplasia
Dyggve Melchior Clausen (DMC ) sindrome di	Dyggve Melchior Clausen (DMC ) syndrome
Jarcho-Levin sindrome di	Jarcho-Levin syndrome
Sindromi da aneuploidia cromosomica	Chromosomal aneuploidy syndromes
Turner sindrome di	Turner syndrome
Pallister-Killian sindrome di	Pallister-Killian syndrome
Sindrome del Cri Du Chat	Cri Du Chat Syndrome
WAGR sindrome di	WAGR syndrome
Williams sindrome di	Williams syndrome
Wolf-Hirschhorn sindrome di	Wolf-Hirschhorn syndrome
Sindrome del cromosoma X fragile	Fragile X chromosome syndrome
Loeys-Dietz sindrome di	Loeys-Dietz syndrome
Shprintzen-Goldberg sindrome di	Shprintzen-Goldberg syndrome
Marfan sindrome di	Marfan syndrome
Ehlers Danlos sindrome di	Ehlers Danlos Syndrome
Stickler sindrome di	Stickler syndrome
Nanismo osteodisplastico microcefalico primitivo (MOPD)	Primary microcephalic osteodysplastic dwarfism (MOPD)
Aarskog sindrome di	Aarskog syndrome
Dubowitz sindrome di	Dubowitz syndrome
Robinow sindrome di	Robinow syndrome
Russell Silver sindrome di	Russell Silver Syndrome
Seckel sindrome di	Seckel syndrome
SHORT sindrome	SHORT syndrome
Emiipertrofia congenita	Congenital hemihypertrophy
Beckwith-Wiedemann sindrome di	Beckwith-Wiedemann syndrome
Sotos sindrome di	Sotos syndrome
Weaver sindrome di	Weaver syndrome
Simpson-Golabi-Behmel sindrome di	Simpson-Golabi-Behmel syndrome
Marshall-Smith sindrome di	Marshall-Smith syndrome
sindromi note)	known syndromes)
Alagille sindrome di	Alagille syndrome
Alstrom sindrome di	Alstrom syndrome
Amartomatosi multiple	Multiple hamartomatosis
Bannayan-Zonana sindrome di	Bannayan-Zonana syndrome
BirtHoggDubè sindrome di	BirtHoggDub's syndrome
Complesso di Von Meyenburg	Von Meyenburg complex
Cowden malattia di	Cowden's disease
Sclerosi tuberosa	Tuberous sclerosis
Peutz-J eghers sindrome di	Peutz-J eghers syndrome
Sturge-Weber sindrome di	Sturge-Weber syndrome
Von Hippel-Lindau sindrome di	Von Hippel-Lindau syndrome
Sindrome proteus	Proteus syndrome
Angelman sindrome di	Angelman syndrome
Associazione VACTERL/VATER	VACTERL/VATER association
Bardet-Biedl sindrome di	Bardet-Biedl syndrome
Bloom sindrome di	Bloom syndrome
Borjeson-Forssman-Lehmann sindrome di	Borjeson-Forssman-Lehmann syndrome
Char sindrome di	Char syndrome
Coffin-Lowry sindrome di	Coffin-Lowry syndrome
Coffin-Siris sindrome di	Coffin-Siris syndrome
Cohen sindrome di	Cohen syndrome
Cornelia De Lange sindrome di	Cornelia De Lange Syndrome
Costello sindrome di	Costello syndrome
Noonan sindrome di	Noonan syndrome
Sindrome cardiofaciocutanea	Cardiofaciocutaneous syndrome
Leopard sindrome	Leopard syndrome
De Sanctis Cacchione malattia di	De Sanctis Cacchione disease of
Displasia oculo-digito-dentale	Oculo-digital-dental dysplasia
Filippi sindrome di	Philippi syndrome
Sindrome FG	FG syndrome
Fine-Lubinsky sindrome di	Fine-Lubinsky syndrome
Fryns sindrome di	Fryns syndrome
Hermansky-Pudlak sindrome di	Hermansky-Pudlak syndrome
Holt-Oram sindrome di	Holt-Oram syndrome
LevyHollister sindrome di	LevyHollister syndrome
Lowe sindrome di	Lowe syndrome
Mainzer-Saldino sindrome di	Mainzer-Saldino syndrome
Marshall sindrome di	Marshall syndrome
Opitz sindrome di	Opitz syndrome
Pallister-Hall sindrome di	Pallister-Hall syndrome
Pallister-W sindrome di	Pallister-W syndrome
Parry-Romberg sindrome di	Parry-Romberg syndrome
Prader-Willi sindrome di	Prader-Willi syndrome
Rubinstein-Taybi sindrome di	Rubinstein-Taybi syndrome
Sindrome branchio-oculo-facciale	Branchio-oculo-facial syndrome
Sindrome branchio-oto-renale	Branchio-oto-renal syndrome
Sindrome cardiofacciale di Cayler	Cayler's cardiofacial syndrome
Sindrome cerebrocostomandibolare	Cerebrocostomandibular syndrome
Sindrome cerebrooculo-facio-scheletrica	Cerebrooculofacioskeletal syndrome
CHARGE associazione	CHARGE association
Sindrome Kabuki	Kabuki syndrome
Sindrome megalocornea-ritardo mentale	Megalocornea-mental retardation syndrome
Sindrome nail-patella	Nail-patella syndrome
Sindrome oculo-cerebro-cutanea	Oculocerebrocutaneous syndrome
Sindromi progeroidi	Progeroid syndromes
Hutchinson-Gilford sindrome di	Hutchinson-Gilford syndrome
Poichiloderma congenito	Congenital poikiloderma
Wiedemann-Rautenstrauch sindrome di	Wiedemann-Rautenstrauch syndrome
Werner sindrome di	Werner syndrome
Cockayne sindrome di	Cockayne syndrome
Sindrome tricorino-falangea	Trichorinophalangeal syndrome
Smith-Magenis sindrome di	Smith-Magenis syndrome
Townes-Brocks sindrome di	Townes-Brocks syndrome
Sindromi di Waardenburg	Waardenburg syndromes
Waandenburg tipo 1 sindrome di	Waandenburg type 1 syndrome
Waandenburg tipo 2 sindrome di	Waandenburg type 2 syndrome
Waandenburg tipo 3 sindrome di	Waandenburg type 3 syndrome
Wildervanck sindrome di	Wildervanck syndrome
Winchester sindrome di	Winchester syndrome
Wolfram sindrome di	Wolfram syndrome