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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.


M Dumić, I Jasenka, A Silahić, R Kordić. Cockayne syndrome]. Lijec̆nic̆ki vjesnik. 1995 Sep-Oct;117(9-10):232-5

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PMID: 8643015

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