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 skeletal abnormalities and reduced penetrance for the cardiac defects.
van Bever
Y
Y
Institute of Human Genetics, University of Amsterdam (AMC), The Netherlands.
Dijkstra
P F
PF
Hennekam
R C
RC
D000328:Adult; D001145:Arrhythmias, Cardiac; D005260:Female; D006330:Heart Defects, Congenital; D006331:Heart Diseases; D006801:Humans; D017880:Limb Deformities, Congenital; D008297:Male; D010375:Pedigree