Brachyolmia and spinal stenosis

Masza Mukamel, Boaz Karmazyn, Liat De Vries, Gadi Horev, Mordechai Shohat

Research output: Contribution to journalArticlepeer-review

Abstract

Brachyolmia is a rare short-trunk short stature skeletal dysplasia characterized by generalized platyspondyly without significant epiphyseal or metaphyseal changes in the long bones. This group of skeletal dysplasia is heterogeneous and four types have been differentiated on the basis of radiological and genetic findings. We report on two siblings with Hobaek-type brachyolmia complicated by spinal stenosis. This combination has never been reported in the literature and suggests further genetic heterogeneity within brachyolmia.

Original languageEnglish
Pages (from-to)272-275
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume120 A
Issue number2
DOIs
StatePublished - 15 Jul 2003

Keywords

  • Familial brachyolmia
  • Hobaek
  • Spinal stenosis
  • Spondylodysplasia

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