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.
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Authors | Masza Mukamel, Boaz Karmazyn, Liat de Vries, Gadi Horev, Mordechai Shohat |
Journal | American journal of medical genetics. Part A
(Am J Med Genet A)
Vol. 120A
Issue 2
Pg. 272-5
(Jul 15 2003)
ISSN: 1552-4825 [Print] United States |
PMID | 12833413
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright 2003 Wiley-Liss, Inc. |
Topics |
- Adult
- Child
- Female
- Follow-Up Studies
- Genetic Heterogeneity
- Humans
- Male
- Osteochondrodysplasias
(diagnosis, diagnostic imaging, genetics)
- Radiography
- Siblings
- Spinal Stenosis
(diagnosis, diagnostic imaging, genetics)
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