Article
Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.
Pediatric research - 1 Mar 2001
Zafeiriou D I, Thorel F, Andreou A, Kleijer W J, Raams A, Garritsen V H, Gombakis N, Jaspers N G, Clarkson S G
Abstract excerpt
We describe a premature, small for gestational age infant girl with micropthalmia, bilateral congenital cataracts, hearing impairment, progressive somatic and neurodevelopmental arrest, and infantile spasms. She presented a massive photosensitive reaction with erythema and blistering after minimal sun exposure, which slowly gave place to small skin cancers. Her skin fibroblasts were 10-fold more sensitive than...
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