A boy with severe manifestations of type A1 brachydactyly

A Slavotinek; D Donnai

A boy with severe manifestations of type A1 brachydactyly

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

Authors

A Slavotinek¹, D Donnai

Affiliation

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

PMID: 9546826

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.

Publication types

Case Reports

MeSH terms

Adolescent
Bone and Bones / abnormalities
Female
Foot Deformities, Congenital / diagnostic imaging
Foot Deformities, Congenital / genetics*
Foot Deformities, Congenital / pathology
Genes, Dominant
Hand Deformities, Congenital / diagnostic imaging
Hand Deformities, Congenital / genetics*
Hand Deformities, Congenital / pathology
Humans
Infant, Newborn
Male
Nystagmus, Pathologic / genetics
Pedigree
Phenotype
Radiography
Strabismus / genetics