A distinctive type of metaphyseal chondrodysplasia with characteristic thickening of the distal ulna and radius: Possible metaphyseal chondrodysplasia‐rosenberg

• Published in: American journal of medical genetics. Part A Vol. 119A; no. 1; pp. 50 - 56
• Main Authors: Lee, Yung‐Seng, Elliott, Alison M., Loke, Kah‐Yin, Lachman, Ralph S.
• Format: Journal Article
• Language: English
• Published: New York Wiley Subscription Services, Inc., A Wiley Company 15.05.2003
• Subjects: Bone Diseases - genetics; Child; Humans; Male; metaphyseal chondrodysplasia; Radius - abnormalities; Ulna - abnormalities; wrist swelling
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.20074

We report an 8‐year‐old boy with a distinctive form of metaphyseal chondrodysplasia (MCD). He presented with moderate disproportionate short stature and bony swelling of his wrists, knees, and ankles. There were severe metaphyseal abnormalities with a honeycomb appearance affecting the distal tibiae and fibulae, proximal tibiae, distal femurs, distal ulnae and radii, and both hands. His thoracolumbar spine was normal. Radiological examination of the mother's forearms revealed widening of the distal radii and short ulnae with hypoplastic distal ends. Rosenberg and Löhr [1986: Eur J Pediatr 145:40–45] reported a four‐generational kindred in which affected members had thickening of the wrist proximal to the styloid process of the ulna and thickening of the dorsum sellae. Although many of the radiographic features of this patient are those of MCD‐Rosenberg, the skeletal features of our patient do not appear to represent any known classified forms of MCD. © 2003 Wiley‐Liss, Inc.