Familial distal arthrogryposis with craniofacial abnormalities: a new subtype of type II?
We report on 5 relatives in 3 generations with an apparent new type of distal arthrogryposis. These individuals have manifestations of type I distal arthrogryposis, but in addition, have craniofacial anomalies that include facial asymmetry, hypertelorism, downslanting palpebral fissures, high nasal bridge, malar hypoplasia, micrognathia, highly arched palate, notched chin, and posteriorly angulated ears. Their intelligence is normal. Although these manifestations preclude us from placing this family in the type I (isolated) distal arthrogryposis category, we also are unable to place them in any of the recognized subtypes of type II distal arthrogryposis. Thus, we think this family may have a previously undescribed form of autosomal dominant type II distal arthrogryposis.
Department of Medical Genetics, Indiana University School of Medicine, Indianopolis 46202.
C A
CA
Moore
D D
DD
Weaver
D000015:Abnormalities, Multiple / Q000145:classification / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D001176:Arthrogryposis / Q000145:classification / Q000000981:diagnostic imaging / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011859:Radiography; D012886:Skull / Q000002:abnormalities*