title: Diaphragmatic hernia and preaxial polydactyly in spondylothoracic dysplasia.
abstract: We report on two cases (male twins), and a female sib terminated at 20 weeks, whose autopsy revealed features of spondylothoracic dysplasia (STD) and also a diaphragmatic hernia and preaxial polydactyly. We present the findings and review STD and the closely related spondylocostal dysostosis. On the basis of the discussion we suggest that our cases are possibly the first report of preaxial polydactyly in spondylothoracic dysplasia and that STD and spondylocostal dysostosis may be allelic.
authors.affiliation: Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children's Hospital (Alder Hey), Eaton Road, Liverpool, L12 2AP.
authors.forename: Ruth
authors.initials: R
authors.lastname: Day
authors.forename: Alan
authors.initials: A
authors.lastname: Fryer
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D017809:Fatal Outcome; D005385:Fingers / Q000002:abnormalities*; D006548:Hernia, Diaphragmatic / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography; D013904:Thoracic Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014430:Twins, Monozygotic