"Baby rattle" pelvis dysplasia

Valérie Cormier-Daire, Ravi Savarirayan, Ralph S. Lachman, Julie A. Neidich, Kim Grace, David L. Rimoin, William R. Wilcox

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

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.

Original languageEnglish
Pages (from-to)37-42
Number of pages6
JournalAmerican journal of medical genetics
Volume100
Issue number1
DOIs
StatePublished - Apr 15 2001

Keywords

  • Achondrogenesis
  • Chondroosseous
  • Lethal skeletal dysplasia
  • Mesenchymal ossification
  • Morphology

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