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 language | English |
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Pages (from-to) | 272-275 |
Number of pages | 4 |
Journal | American Journal of Medical Genetics, Part A |
Volume | 120 A |
Issue number | 2 |
DOIs | |
State | Published - 15 Jul 2003 |
Keywords
- Familial brachyolmia
- Hobaek
- Spinal stenosis
- Spondylodysplasia