Autosomal dominant familial radial luxation, carpal fusion and scapular dysplasia with variable heart defects

A family is described with skeletal abnormalities involving the shoulder, elbow, and hand, in combination with variable cardiac defects including conduction defects and anatomical anomalies. The disorder followed an autosomal dominant pattern of inheritance with apparently full penetrance for the sk...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 65; no. 3; p. 213
Main Authors van Bever, Y, Dijkstra, P F, Hennekam, R C
Format Journal Article
LanguageEnglish
Published United States 28.10.1996
Subjects
Adult
Arrhythmias, Cardiac
Female
Heart Defects, Congenital
Heart Diseases
Humans
Limb Deformities, Congenital
Male
Pedigree
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Summary:A family is described with skeletal abnormalities involving the shoulder, elbow, and hand, in combination with variable cardiac defects including conduction defects and anatomical anomalies. The disorder followed an autosomal dominant pattern of inheritance with apparently full penetrance for the skeletal abnormalities and reduced penetrance for the cardiac defects.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19961028)65:3<213::AID-AJMG8>3.0.CO;2-Q