Hypochondroplasia.
Clinical, radiological, and genetic features are described in 3 patients with hypochondroplasia. Early recognition of this disorder is possible from the abnormal body proportions with short limbs and lumbar lordosis without facial stigmata of achondroplasia. Radiological confirmation is possible provided a full skeletal survey is made. Two of our patients had a large head.
D002357:Cartilage Diseases / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005121:Extremities / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging