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Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature

✍ Scribed by Mortier, Geert R.; Lachman, Ralph S.; Bocian, Maureen; Rimoin, David L.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 116 KB
Volume: 61
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960202)61:4<310::aid-ajmg3>3.0.co;2-y

No coin nor oath required. For personal study only.

✦ Synopsis

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 radiographic 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.

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