title: Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity.
abstract: Two siblings with spondylothoracic dysostosis, and two siblings and three unrelated children with spondylocostal dysostosis are described. Both conditions are inherited and characterised by malformed thoracic and lumbar vertebrae. Spondylothoracic dysostosis produces "crab-like" deformities of the ribs, and is usually fatal during early infancy due to respiratory failure. Spondylocostal dysostosis causes short-trunked dwarfism but does not usually reduce life expectancy. These clinical features are distinct from congenital scoliosis, although all three conditions are associated with a particular group of malformations.
authors.affiliation: Royal Hospital for Sick Children, Orthopaedic Department, Yorkhill, Glasgow, Scotland.
authors.forename: A P
authors.initials: AP
authors.lastname: Roberts
authors.forename: A N
authors.initials: AN
authors.lastname: Conner
authors.forename: J L
authors.initials: JL
authors.lastname: Tolmie
authors.forename: J M
authors.initials: JM
authors.lastname: Connor
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004413:Dysostoses / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008159:Lumbar Vertebrae / Q000002:abnormalities*; D008297:Male; D012272:Ribs / Q000002:abnormalities*; D013904:Thoracic Vertebrae / Q000002:abnormalities*