[Cockayne syndrome].

M Dumić; I Jasenka; A Silahić; R Kordić

PubMed · 8643015

[Cockayne syndrome].

Abstract

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.

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Child Cockayne Syndrome Female Humans Case Reports English Abstract Journal Article

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M Dumić, I Jasenka, A Silahić, R Kordić. [Cockayne syndrome].. https://pubmed.ncbi.nlm.nih.gov/8643015/

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