An unusual distal arthrogryposis.
We report on a mother and her dizygotic twin fetuses who were affected with distal arthrogryposis. In addition the mother has cervical vertebral anomalies, scoliosis, short stature, nuchal and axillary pterygia, and unusual facial appearance. The fetuses had a short neck, pterygium colli, retrognathia, and mild apparent scoliosis. We think that these three individuals have a previously undescribed type of distal arthrogryposis.
D000328:Adult; D001176:Arthrogryposis / Q000145:classification / Q000235:genetics*; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D008297:Male; D011247:Pregnancy; D014429:Twins, Dizygotic