PubMed · 1971 · 173 citations · 0 references
MedicineAnatomyGeneticsDevelopmental AnatomyHuman GeneticsCongenital AnomaliesCongenital Cranial AnomaliesCongenital DisordersCongenital Ear AnomaliesCongenital MalformationsAutosomal Dominant InheritanceCongenital ContracturesHeritable Connective Tissue Disorder PhenotypesHeritable Disease Susceptibility
Twelve kindreds with congenital contractural arachnodactyly, a distinct syndrome of arachnodactyly, dolichostenomelia, contractures, scoliosis, characteristic ear shape, and normal intelligence that is transmitted by autosomal dominant inheritance have been identified in the literature and two additional kindreds described.