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ETTORE PIRO

DIAGNOSIS AND FOLLOW-UP OF COMPLEX CONGENITAL MALFORMATIONS/MENTAL RETARDATION (MRA/MR)

  • Authors: Piro, E; Consiglio, V; Agrifoglio, M; Sireci, F; Ballacchino, A; Salvago, P; Martines, F; Graziano, F; Busè, M; Sanfilippo, C; Vecchio, D; SALZANO, E
  • Publication year: 2013
  • Type: Articolo in rivista (Articolo in rivista)
  • OA Link: http://hdl.handle.net/10447/81724

Abstract

Complex congenital malformations, associated in 30% of cases with mental retardation, recognize different etiologies: environmental causes, mendelian disease, chromosomal abnormalities, imprinted anomalies. Frequently complex congenital disorders are rare diseases. Rare diseases are infrequent pathological conditions (prevalence in the general population of less than 1/2.000 live births1), and often poorly understood. Because of their rarity these morbid conditions often either go undiagnosed or are diagnosed late with a negative impact for both the affected person and the family. The birth prevalence is high (2-4% of all births). The diagnosis is essential to program complex and integrated care interventions (follow-up programs aimed at early detection of any disease associated with different syndromes) and to carry out proper genetic family counseling (risk of recurrence, prenatal diagnosis, detection of heterozygotes etc).