New syndrome of spondylospinal thoracic dysostosis with multiple pterygia and arthrogryposis.
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.
Johnson
V P
VP
Department of Obstetrics/Gynecology, University of South Dakota School of Medicine, Sioux Falls, USA.
Keppen
L D
LD
Carpenter
M S
MS
Randall
B B
BB
Newby
P E
PE
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*