Title
Multiple vertebral segmentation defects : analysis of 26 new patients and review of the literature Multiple vertebral segmentation defects : analysis of 26 new patients and review of the literature
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
New York, N.Y. ,
Subject
Human medicine
Source (journal)
American journal of medical genetics. - New York, N.Y., 1977 - 2002
Volume/pages
61(1996) :4 , p. 310-319
ISSN
0148-7299
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Abstract
To further delineate and classify those forms of short trunk dwarfism characterized by multiple vertebral segmentation defects, we analyzed 26 new patients and reviewed 115 described in the literature. Three distinct entities were recognized based on radio-graphic and clinical findings. Jarcho-Levin syndrome is the lethal autosomal recessive form, characterized by a symmetric crablike chest. Spondylocostal dysostosis is the benign autosomal dominant condition. Spondylothoracic dysostosis shows considerable clinical and radiographic overlap with spondylocostal dysostosis. Malformations observed in association with multiple vertebral segmentation defects are more common in the sporadic patients. Analysis of the 26 new individuals revealed that the body segment in which these nonvertebral malformations occur corresponds to the site of the vertebral segmentation defects.
E-info
https://repository.uantwerpen.be/docman/iruaauth/f5e7d2/e0410a12f89.pdf