Robinow syndrome without mesomelic 'brachymelia': a report of five cases

A family is described in which the father and his two children had Robinow syndrome, but with no consistent brachymelia or dwarfism. Two further sporadic cases are described, one with rhizomelic brachymelia and dwarfism and the other with generalised shortening of the limbs. An attempt is also made...

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Bibliographic Details
Published in:Journal of medical genetics 1986-08, Vol.23 (4), p.350-354
Main Authors: Bain, M D, Winter, R M, Burn, J
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Dwarfism - genetics
Face - abnormalities
Female
Genes, Dominant
Genes, Recessive
Humans
Limb Deformities, Congenital
Male
Penis - abnormalities
Syndrome
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Summary:A family is described in which the father and his two children had Robinow syndrome, but with no consistent brachymelia or dwarfism. Two further sporadic cases are described, one with rhizomelic brachymelia and dwarfism and the other with generalised shortening of the limbs. An attempt is also made to distinguish between the phenotype of autosomal dominant and recessive cases on the basis of the familial cases in this paper and other reported cases.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.23.4.350