| New syndrome of spondylospinal thoracic dysostosis with multiple pterygia and arthrogryposis. | |
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MedLine Citation:
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PMID: 9066887 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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V P Johnson; L D Keppen; M S Carpenter; B B Randall; P E Newby |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 69 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1997 Mar |
Date Detail:
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Created Date: 1997-06-24 Completed Date: 1997-06-24 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 73-8 Citation Subset: IM |
Affiliation:
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Department of Obstetrics/Gynecology, University of South Dakota School of Medicine, Sioux Falls, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Arthrogryposis
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radiography* Dysostoses / radiography* Female Humans Infant, Newborn Pterygium / radiography* Syndrome Thoracic Vertebrae / radiography* |
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