Dysmorphic face, precociously senile appearance, microcephaly, growth retardation and neuropsychomotor delay
- Autori: Piccione, M.; Piro, E.; Martines, M.; Pusateri, F.; Benenati, A.; Corsello, G.
- Anno di pubblicazione: 2005
- Tipologia: Articolo in rivista (Articolo in rivista)
Cockayne's syndrome is a rare recessive autosomal disorder. Its frequency at birth is very low. In the classical form (type 1) the clinical appearance becomes evident by the second year of life. Itis characterized by severe growth delay, microcephaly, progressive loss of adipose tissue, senile appearance, dysmorphic facial features, ocular anomalies (retinal pigmentary degeneration, nistagmus, cataract, optic atrophy).