A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia

Citation
L. Faivre et al., A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia, CLIN DYSMOR, 10(3), 2001, pp. 181-184
Citations number
8
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
CLINICAL DYSMORPHOLOGY
ISSN journal
09628827 → ACNP
Volume
10
Issue
3
Year of publication
2001
Pages
181 - 184
Database
ISI
SICI code
0962-8827(200107)10:3<181:ANSWDP>2.0.ZU;2-2
Abstract
We report on a 15-year-old girl with severe pre- and post-natal growth reta rdation, poorly muscled build, micrognathia, ulnar ray oligodactyly; absent clavicles, abnormal scapulae, humeroradial fusion, hip dislocation, small iliac wings, slender tubular bones and normal intelligence. An extensive se arch has failed to ascribe this association to a known condition. This chil d shared some clinical and radiological features with the Yunis-Varon syndr ome but the normal intelligence and the ulnar ray oligodactyly of our patie nt does not support this diagnosis. Clin Dysmorphol 10: 181-184 (C) 2001 Li ppincott Williams & Wilkins.