"Baby rattle" pelvis dysplasia

Citation
V. Cormier-daire et al., "Baby rattle" pelvis dysplasia, AM J MED G, 100(1), 2001, pp. 37-42
Citations number
11
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
100
Issue
1
Year of publication
2001
Pages
37 - 42
Database
ISI
SICI code
0148-7299(20010415)100:1<37:"RPD>2.0.ZU;2-U
Abstract
We report an apparently previously undescribed lethal skeletal dysplasia, c linically resembling achondrogenesis, but with distinct radiologic and chon dro-osseous morphologic features. These comprise bifid distal ends of the l ong bones of the limbs, absent vertebral body ossification, a unique "baby rattle" pelvic configuration with tall and broad ilia, absent endochondral ossification, regions of mesenchymal cells within the resting cartilage, an d abnormal mesenchymal ossification. (C) 2001 Wiley-Liss, Inc.