"Baby rattle" pelvis dysplasia.
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.
Cormier-Daire
V
V
Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Cedars-Sinai Burns and Allen Research Institute, Los Angeles, California, USA.
Savarirayan
R
R
Lachman
R S
RS
Neidich
J A
JA
Grace
K
K
Rimoin
D L
DL
Wilcox
W R
WR
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
D003094:Collagen