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Case Reports
. 1997 Mar 3;69(1):73-8.
doi: 10.1002/(sici)1096-8628(19970303)69:1<73::aid-ajmg14>3.0.co;2-l.

New syndrome of spondylospinal thoracic dysostosis with multiple pterygia and arthrogryposis

V P Johnson  1 , L D Keppen, M S Carpenter, B B Randall, P E Newby
Affiliations
Case Reports

New syndrome of spondylospinal thoracic dysostosis with multiple pterygia and arthrogryposis

V P Johnson et al. Am J Med Genet. .

Abstract

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.

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