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Am J Med Genet. 1992 Feb 15;42(4):415-9.

Anthropometric studies in five children and their mother with a severe form multiple epiphyseal dysplasia.

Author information

1
Genetics Department, Instituto Nacional de Pediatría, México, D. F.

Abstract

We report on a form of multiple epiphyseal dysplasia with striking acromelic shortness in a woman and five of her ten children. The somatometric and metacarpo-phalangeal pattern profile of the affected individual showed short limb dwarfism and shortness of all the tubular bones of the hand. Epiphyseal irregularities and shortness of the 4th metatarsal bones were outstanding. The disorder showed a dominant and probably autosomal pattern of inheritance with variability of expression. The measurement of metacarpo-phalangeal profiles allowed an objective and quantitative assessment of brachydactyly. In the family reported here, there was a clear discrepancy between the severity of shortness of hands and feet and the severity of shortness of stature. This family also illustrates the effects of a single gene in a large kindred, therefore describing the range and variability of a phenotype not otherwise available.

PMID:
1609821
DOI:
10.1002/ajmg.1320420402
[Indexed for MEDLINE]

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