The campomelic syndrome in a singleton and monozygotic twins.
We describe here three patients with the campomelic syndrome, two of whom were identical twins. Both twins were phenotypically female but had an XY chromosome complement.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D004200:Diseases in Twins; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011859:Radiography; D013577:Syndrome; D014427:Twins; D014430:Twins, Monozygotic