Brachyolmia and spinal stenosis

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

doi:10.1002/ajmg.a.20204

Brachyolmia and spinal stenosis

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

Clinical Departments

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	272-275
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	120 A
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.20204
State	Published - 15 Jul 2003

Keywords

Familial brachyolmia
Hobaek
Spinal stenosis
Spondylodysplasia

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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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AU - Karmazyn, Boaz

AU - De Vries, Liat

AU - Horev, Gadi

AU - Shohat, Mordechai

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AB - 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.

KW - Familial brachyolmia

KW - Hobaek

KW - Spinal stenosis

KW - Spondylodysplasia

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JO - American Journal of Medical Genetics, Part A

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Brachyolmia and spinal stenosis

Abstract

Keywords

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