Hypochondroplasia: clinical and radiological aspects in 39 cases.
A retrospective review of 39 cases of hypochondroplasia revealed consistent but variable degrees of clinical and radiological features sufficient to allow differentiation from other well-established metaphyseal chondrodysplasias. Macrocephaly was noted in approximately half the cases. This contradicts a finding of normocephaly in previous studies.
D000130:Achondroplasia / Q000175:diagnosis / Q000000981:diagnostic imaging*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging; D005360:Fibula / Q000000981:diagnostic imaging; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D011859:Radiography; D012189:Retrospective Studies; D013131:Spine / Q000000981:diagnostic imaging; D014457:Ulna / Q000000981:diagnostic imaging