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