title: Gracile bone dysplasia.
abstract: Gracile bones are a frequent abnormality associated with fetal hypokinesia of any cause. With the exception of thin, undermineralized bones, the chondro-osseous structure is usually normal in these cases. We present a lethal skeletal dysplasia comprising minor anomalies, central nervous system abnormalities, gracile long bones, and abnormal chondro-osseous morphology. In addition to a short, disordered growth plate, the chondrocytes contained dilated loops of rough endoplasmic reticulum, suggesting an abnormality of an extracellular matrix protein. This protein appears to have effects on chondro-osseous and on facial and central nervous system development. We suggest the term "gracile bone dysplasia" to describe this disorder.
authors.affiliation: Department of Pediatrics, The Children's Hospital, University of Colorado School of Medicine, Denver, USA.
authors.forename: J A
authors.initials: JA
authors.lastname: Thomas
authors.forename: D L
authors.initials: DL
authors.lastname: Rimoin
authors.forename: R S
authors.initials: RS
authors.lastname: Lachman
authors.forename: W R
authors.initials: WR
authors.lastname: Wilcox
mesh_terms: D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000473:pathology*; D019902:Chondrocytes / Q000473:pathology / Q000648:ultrastructure; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D005313:Fetal Death / Q000473:pathology; D006226:Hand Deformities / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D011247:Pregnancy; D011859:Radiography; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging