title: New syndrome of spondylospinal thoracic dysostosis with multiple pterygia and arthrogryposis.
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.
authors.affiliation: Department of Obstetrics/Gynecology, University of South Dakota School of Medicine, Sioux Falls, USA.
authors.forename: V P
authors.initials: VP
authors.lastname: Johnson
authors.forename: L D
authors.initials: LD
authors.lastname: Keppen
authors.forename: M S
authors.initials: MS
authors.lastname: Carpenter
authors.forename: B B
authors.initials: BB
authors.lastname: Randall
authors.forename: P E
authors.initials: PE
authors.lastname: Newby
mesh_terms: D001176:Arthrogryposis / Q000000981:diagnostic imaging*; D004413:Dysostoses / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011625:Pterygium / Q000000981:diagnostic imaging*; D011859:Radiography; D013577:Syndrome; D013904:Thoracic Vertebrae / Q000000981:diagnostic imaging*