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New syndrome of spondylospinal thoracic dysostosis with multiple pterygia and arthrogryposis
V P Johnson1, L D Keppen, M S Carpenter
1Department of Obstetrics/Gynecology, University of South Dakota School of Medicine, Sioux Falls, USA.
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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