Spondylocostal dysostosis: dominant type.
We report on a father and daughter who have spondylocostal dysostosis. The girl's ribs are more severely abnormal than those of the 2 previously reported cases of dominant spondylocostal dysostosis and are rather suggestive of the autosomal recessive type. The differential diagnosis of both forms is discussed.
Lorenz
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P
Department of Clinical Genetics, Medical Academy Dresden Carl Gustav Carus, German Democratic Republic.
Rupprecht
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E
D000328:Adult; D003937:Diagnosis, Differential; D004413:Dysostoses / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D008159:Lumbar Vertebrae / Q000002:abnormalities*; D008297:Male; D011859:Radiography; D012272:Ribs / Q000002:abnormalities*; D013904:Thoracic Vertebrae / Q000002:abnormalities*