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).

PICCIONE M, PIRO E, MARTINES M, PUSATERI F, BENENATI A, CORSELLO G (2005). Dysmorphic face, precociously senile appearance, microcephaly, growth retardation and neuropsychomotor delay. THE ITALIAN JOURNAL OF PEDIATRICS, 31(2), 86-88.

Dysmorphic face, precociously senile appearance, microcephaly, growth retardation and neuropsychomotor delay

PICCIONE, Maria;PIRO, Ettore;BENENATI, Antonina;CORSELLO, Giovanni
2005-01-01

Abstract

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).
2005
PICCIONE M, PIRO E, MARTINES M, PUSATERI F, BENENATI A, CORSELLO G (2005). Dysmorphic face, precociously senile appearance, microcephaly, growth retardation and neuropsychomotor delay. THE ITALIAN JOURNAL OF PEDIATRICS, 31(2), 86-88.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10447/13939
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