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New syndrome of spondylospinal thoracic dysostosis with multiple pterygia and arthrogryposis

✍ Scribed by Johnson, Virginia P.; Keppen, Laura D.; Carpenter, Mary S.; Randall, Brad B.; Newby, Paul E.

Book ID: 101215964
Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 385 KB
Volume: 69
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970303)69:1<73::aid-ajmg14>3.0.co;2-l

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✦ Synopsis

We describe a "new" syndrome of spondylospinal thoracic dysostosis with a short curved spine and fusion of the spinous processes, short thorax with "crab-like" configuration of the ribs, pulmonary hypoplasia, severe arthrogryposis and multiple pterygia, and hypoplastic maxilla and mandible in two siblings. This appears to be an autosomal recessive lethal trait. A literature review revealed two reports of four similar or related cases. Am.

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