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Epiphysiolysis capitis femoris mit wahrscheinlieh unregelmäßig dominantem Erbgang Bericht über eine Familie mit 10 Fällen


Ochsner, P E; Razavi, R; Schinzel, Albert (1977). Epiphysiolysis capitis femoris mit wahrscheinlieh unregelmäßig dominantem Erbgang Bericht über eine Familie mit 10 Fällen. Zeitschrift fur Orthopädie und ihre Grenzgebiete, 115(6):840-847.

Abstract

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.

Abstract

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.

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Additional indexing

Other titles:Slipped capital femoral epiphyses in ten members of one family: probably autosomal dominant transmission with variable penetrance
Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
04 Faculty of Medicine > Balgrist University Hospital, Swiss Spinal Cord Injury Center
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Health Sciences > Surgery
Health Sciences > Orthopedics and Sports Medicine
Language:English
Date:December 1977
Deposited On:28 Mar 2024 10:53
Last Modified:31 May 2024 01:57
Publisher:Ferdinand Enke Verlag Stuttgart
ISSN:0044-3220
OA Status:Closed
Related URLs:https://api.semanticscholar.org/CorpusID:6919458 (Organisation)
PubMed ID:602375
Other Identification Number:Corpus ID: 6919458