[Cockayne syndrome].
A 9-year-old girl with characteristic clinical signs of Cockayne's syndrome type I (cachectic dwarfism, "senile" like appearance, mental retardation, progressive neurologic and retinal degeneration) is presented. Computerized tomography and magnetic resonance imaging of the brain have shown a large malformation in cerebral posterior fossa. The case also has unusual aspects: pronounced congenital hypertrichosis and dark pigmented teeth. To our knowledge, these signs have never been described in the literature in connection with this rare syndrome.
Dumić
M
M
Klinika za pedijatriju, Rebro, Zagreb.
Jasenka
I
I
Silahić
A
A
Kordić
R
R
D002648:Child; D003057:Cockayne Syndrome / Q000175:diagnosis; D005260:Female; D006801:Humans
Cockayneov sindrom.