Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family.
This report gives a description of a three-generation family in which spondylocostal dysostosis associated with previously unreported neurological complaints occurred in five family members, suggesting autosomal dominant inheritance. A review of the literature is presented and previously unreported neurological complaints, e.g. neurogenic claudicatio, are emphasized.
Floor
E
E
Department of Child Neurology, University Hospital, Maastricht, The Netherlands.
De Jong
R O
RO
Fryns
J P
JP
Smulders
C
C
Vles
J S
JS
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography; D012272:Ribs / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome; D013580:Synostosis / Q000235:genetics; D013904:Thoracic Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging