Mesomelic shortening of the upper extremities with spur formation and cutaneous dimpling.
We report a boy with mesomelic dysplasia of the forearms, skin dimples, mildly bowed tibiae, metatarsus adductus, congenital cataracts, sensorineural hearing loss, hypotonia, and mildly dysmorphic features. Prominent radiologic findings include bony spurs of the diaphyses of the radii bilaterally with angulated, significantly shortened radii and ulnae and elbow dislocations. Changes in the lower extremities are confined to bowing of the tibiae and elongation of the thinned fibulae. To our knowledge this case represents a unique combination of findings not previously reported, although some resemblance was found to a patient reported by Kozlowski et al. in 1993.
Kerner
B
B
Department of Medical Genetics and Pediatrics Cedars-Sinai Medical Center University of California, Los Angeles Los Angeles, California USA.
Rimoin
D L
DL
Lachman
R S
RS
D000015:Abnormalities, Multiple; D002386:Cataract / Q000151:congenital; D005145:Face / Q000002:abnormalities; D006319:Hearing Loss, Sensorineural / Q000151:congenital; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging*; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D011859:Radiography; D013577:Syndrome