The "long-thumb" brachydactyly syndrome.
A unique variety of brachydactyly associated with skeletal and joint anomalies and possible cardiac conduction defects has been observed in three generations of one family in a pattern consistent with autosomal-dominant transmission. This combination of anomalies has not previously been seen together as a single syndrome. We report clinical and radiographic studies in three of the four affected members.
D000328:Adult; D001145:Arrhythmias, Cardiac / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D007592:Joint Diseases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome