title: "Baby rattle" pelvis dysplasia.
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.
authors.affiliation: Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Cedars-Sinai Burns and Allen Research Institute, Los Angeles, California, USA.
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: R
authors.initials: R
authors.lastname: Savarirayan
authors.forename: R S
authors.initials: RS
authors.lastname: Lachman
authors.forename: J A
authors.initials: JA
authors.lastname: Neidich
authors.forename: K
authors.initials: K
authors.lastname: Grace
authors.forename: D L
authors.initials: DL
authors.lastname: Rimoin
authors.forename: W R
authors.initials: WR
authors.lastname: Wilcox
mesh_terms: D000130:Achondroplasia / Q000473:pathology*; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities / Q000737:chemistry / Q000648:ultrastructure; D003094:Collagen / Q000032:analysis; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D005315:Fetal Diseases / Q000473:pathology*; D005333:Fetus / Q000002:abnormalities; D006801:Humans; D007150:Immunohistochemistry; D008854:Microscopy, Electron; D011247:Pregnancy
chemical_list: D003094:Collagen