NEW SYNDROME OF SPONDYLOSPINAL THORACIC DYSOSTOSIS WITH MULTIPLE PTERYGIA AND ARTHROGRYPOSIS

Authors
JOHNSON VP KEPPEN LD CARPENTER MS RANDALL BB NEWBY PE
Citation
Vp. Johnson et al., NEW SYNDROME OF SPONDYLOSPINAL THORACIC DYSOSTOSIS WITH MULTIPLE PTERYGIA AND ARTHROGRYPOSIS, American journal of medical genetics, 69(1), 1997, pp. 73-78
Citations number
7
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
69
Issue
1
Year of publication
1997
Pages
73 - 78
Database
ISI
SICI code
0148-7299(1997)69:1<73:NSOSTD>2.0.ZU;2-B
Abstract
We describe a ''new'' syndrome of spondylospinal thoracic dysostosis w ith a short curved spine and fusion of the spinous processes, short th orax with ''crab-like'' configuration of the ribs, pulmonary hypoplasi a, severe arthrogryposis and multiple pterygia, and hypoplastic maxill a and mandible in two siblings. This appears to be an autosomal recess ive lethal trait. A literature review revealed two reports of four sim ilar or related cases. (C) 1997 Wiley-Liss, Inc.