New mesomelic dysplasia with absent fibulae and triangular tibiae

Authors
Savarirayan, R Cormier-Daire, V Curry, CJ Nashelsky, MB Rappaport, V Rimoin, DL Lachman, RS
Citation
R. Savarirayan et al., New mesomelic dysplasia with absent fibulae and triangular tibiae, AM J MED G, 94(1), 2000, pp. 59-63
Citations number
21
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
94
Issue
1
Year of publication
2000
Pages
59 - 63
Database
ISI
SICI code
0148-7299(20000904)94:1<59:NMDWAF>2.0.ZU;2-6
Abstract
We report on two unrelated, sporadic cases of a mesomelic dysplasia charact erized by absence of fibulae and severely hypoplastic, triangular-shaped ti biae. Moderate mesomelic shortness was present in the upper limbs with prox imal widening of the ulnae, There was also axial skeletal involvement in bo th cases, characterized radiographically by an abnormal pelvis and marked b ilateral glenoid hypoplasia. These cases appear to represent a new form of mesomelic dysplasia distinct from those previously delineated. (C) 2000 Wil ey-Liss, Inc.