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

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

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

Access to Document

10.1002/ajmg.a.20204

Cite this

@article{7e2c85986fdd4b84a43339424c336613,

title = "Brachyolmia and spinal stenosis",

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.",

keywords = "Familial brachyolmia, Hobaek, Spinal stenosis, Spondylodysplasia",

author = "Masza Mukamel and Boaz Karmazyn and {De Vries}, Liat and Gadi Horev and Mordechai Shohat",

year = "2003",

month = jul,

day = "15",

doi = "10.1002/ajmg.a.20204",

language = "אנגלית",

volume = "120 A",

pages = "272--275",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "John Wiley and Sons Inc.",

number = "2",

}

TY - JOUR

T1 - Brachyolmia and spinal stenosis

AU - Mukamel, Masza

AU - Karmazyn, Boaz

AU - De Vries, Liat

AU - Horev, Gadi

AU - Shohat, Mordechai

PY - 2003/7/15

Y1 - 2003/7/15

N2 - 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.

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

UR - http://www.scopus.com/inward/record.url?scp=0041822008&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.20204

DO - 10.1002/ajmg.a.20204

M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???

C2 - 12833413

AN - SCOPUS:0041822008

SN - 1552-4825

VL - 120 A

SP - 272

EP - 275

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 2

ER -

Brachyolmia and spinal stenosis

Abstract

Keywords

Access to Document

Other files and links

Fingerprint

Cite this