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  • Title: Brachyolmia and spinal stenosis.
    Author: Mukamel M, Karmazyn B, de Vries L, Horev G, Shohat M.
    Journal: Am J Med Genet A; 2003 Jul 15; 120A(2):272-5. PubMed ID: 12833413.
    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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