M Dumić, I Jasenka, A Silahić, R Kordić
Klinika za pedijatriju, Rebro, Zagreb.
Lijec̆nic̆ki vjesnik 1995 Sep-OctA 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.
M Dumić, I Jasenka, A Silahić, R Kordić. Cockayne syndrome]. Lijec̆nic̆ki vjesnik. 1995 Sep-Oct;117(9-10):232-5
PMID: 8643015
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