Journal article
"Baby rattle" pelvis dysplasia
V Cormier-Daire, R Savarirayan, RS Lachman, JA Neidich, K Grace, DL Rimoin, WR Wilcox
American Journal of Medical Genetics | WILEY-LISS | Published : 2001
DOI: 10.1002/ajmg.1188
Abstract
We report an apparently previously undescribed lethal skeletal dysplasia, clinically resembling achondrogenesis, but with distinct radiologic and chondro-osseous morphologic features. These comprise bifid distal ends of the long 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, and abnormal mesenchymal ossification. © 2001 Wiley-Liss, Inc.
Grants
Awarded by Eunice Kennedy Shriver National Institute of Child Health and Human Development