6533b7d0fe1ef96bd125a0b7
RESEARCH PRODUCT
Dysmorphic face, precociously senile appearance, microcephaly, growth retardation and neuropsychomotor delay
M. PiccioneEttore PiroM. MartinesF. PusateriA. BenenatiG. Corsellosubject
Dysmorphic facegrowth retardationmicrocephalydescription
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).
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2005-01-01 |