[Costovertebral dysplasia. A receptor defect of sclerotome development?].
8 subjects with costovertebral dysplasia in 4 interrelated families are described. The cases occurred from 1949 to 1978 and all showed the analogous generalized malformation of the vertebrae and ribs. One child with concomitant chromosomal anomaly (Down's syndrome) died at the age of 7 days. Follow-up in the 7 cases shows no decrease in life expectancy or any other malformation, and in particular non bronchopneumonial complications. Case reports and comparisons of the prevalence of neural tube defects in this isolated population and in Switzerland rule out increased risk of neural tube defects for costovertebral dysplasia. The pedigree of kindred over 8 generations is consistent with autosomal recessive inheritance. As the cause of the malformation a possible receptor defect of the mesodermal sclerotomes is discussed.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics*; D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011859:Radiography; D012272:Ribs / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013557:Switzerland
Kostovertebrale Dysplasie. Ein Rezeptordefekt der Sklerotomentwicklung?