[Slipped capital femoral epiphyses in ten members of one family: probably autosomal dominant transmission with variable penetrance (author's transl)].
Ten members of a family suffered from slipped capital femoral epiphyses (ECF), and two further descendants had coxarthrosis possibly following subclinical course of an ECF. This pedigree is suggestive for a dominant inheritance with variable penetrance. Besides a few families with more than two affected members, almost 95% of the cases in the literature occur sporadically, many of these probably representing phenocopies. In view of the recurrence risk (at least 5% in sporadic cases), genetic counseling of the parents of any patient is recommended. Since early onset of treatment improves the prognosis considerably, parents of an affected child should be informed to pay special attention to early symptoms in their younger children. Moreover, preventive radiological examinations may be indicated in families at a higher risk. For imminent ECF, bilateral epiphyseal spiking is the treatment of choice.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D004839:Epiphyses, Slipped / Q000000981:diagnostic imaging / Q000235:genetics* / Q000517:prevention & control / Q000601:surgery; D005260:Female; D005270:Femur Head / Q000000981:diagnostic imaging / Q000601:surgery; D005799:Genes, Dominant; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000517:prevention & control; D006801:Humans; D008297:Male; D008875:Middle Aged; D011859:Radiography
Epiphysiolysis capitis femoris mit wahrscheinlich unregelmässig dominantem Erbgang. Bericht über eine Familie mit 10 Fällen.