[Spondylocostal dysostosis. Report of 5 cases including siblings and an atypical case].
Spondylocostal Dysostosis (sp. c. D.) is characterized by multiple morphological anomalies of the vertebrae and ribs which are frequently fused. This is due to malsegmentation of the axial skeleton probably before the 20th day of embryonic development. There are severe and moderate forms. The etiology is heterogeneous since dominant, and more frequently recessive inheritance has been noted and phenocopies should be expected. Sp. c. D. may be part of a genetic malformation syndrome. Five observations are reported, three typical including sibs, and two atypical ones. The sixth case demonstrates rachischisis anterior (et posterior) of the entire spine.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*
Die Spondylocostale Dysostose. Bericht über 5 Beobachtungen einschliesslich Geschwister und einen atypischen Fall.