A boy with severe manifestations of type A1 brachydactyly

1 January 1998

journal article
case report
Published by Wolters Kluwer Health in Clinical Dysmorphology

Vol. 7 (1) , 21???28-28
https://doi.org/10.1097/00019605-199801000-00004

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.

Keywords

AUTOSOMAL DOMINANT
CLINICAL FINDINGS
TYPE A1
SEVERE MANIFESTATIONS
SKELETAL ABNORMALITIES
SECOND FAMILY
A1 BRACHYDACTYLY
FINDINGS REPRESENT

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