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Clin Dysmorphol. 1998 Jan;7(1):21-7.

A boy with severe manifestations of type A1 brachydactyly.

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1
Department of Clinical Genetics, St Marys Hospital, Manchester, UK.

Abstract

We describe a male with type A1 brachydactyly, a descendant of Drinkwaters second family. In addition to absence of the middle phalanges of his hands and feet he has generalised skeletal abnormalities, nystagmus and a squint. We suggest that his clinical findings represent the more severe manifestations of this autosomal dominant gene.

PMID:
9546826
[Indexed for MEDLINE]
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