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Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study.

Abstract
Brachyolmia recessive type (Hobaek) is a rare bone dysplasia characterized by short trunk dwarfism that becomes evident during childhood. The radiographic manifestations are primarily limited to the spine, and consist of universal platyspondyly with lateral extension of the vertebral bodies beyond the pedicles and irregularity of the vertebral end plates. Histologic changes seen on growth plate biopsy permit the diagnosis to be confirmed. The inheritance pattern appears to be autosomal-recessive.
AuthorsW A Horton, L O Langer, D L Collins, C Dwyer
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 16 Issue 2 Pg. 201-11 (Oct 1983) ISSN: 0148-7299 [Print] UNITED STATES
PMID6650565 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Collagen
Topics
  • Bone Diseases, Developmental (diagnosis, genetics, metabolism)
  • Collagen (metabolism)
  • Female
  • Genes, Recessive
  • Growth Plate (pathology)
  • Histocytochemistry
  • Humans
  • Ilium (pathology)
  • Infant, Newborn
  • Male

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