Autosomal dominant inheritance of congenital dislocation of the hip in 16 members of a family

Gülay Ceylaner; Serdar Ceylaner; Fulya Üstünkan; Muharrem İnan

Research Article

Autosomal dominant inheritance of congenital dislocation of the hip in 16 members of a family

Year 2008, Volume: 42 Issue: 4, 289 - 291, 18.12.2008

Gülay Ceylaner Serdar Ceylaner Fulya Üstünkan Muharrem İnan

Abstract

The effect of genetic factors on hip dislocation, acetabular dysplasia, and developmental dysplasia of the hip (DDH) has long been recognized. In this report, we presented a large family that showed single gene inheritance for DDH. Pedigree analysis of a pregnant woman revealed a history of DDH in 16 members of the family. Although the pedigree showed autosomal dominant inheritance with reduced penetrance, the prevalence of DDH was considerably high, almost accounting for one-third of the family members, and skipping only one generation. Of 16 cases, three patients were diagnosed at our center. The remaining 13 patients were diagnosed at other centers. Dislocation was diagnosed very late in most of the family members, while four cases were diagnosed at birth. All family members were informed by a detailed clinical letter and recommended evaluation for DDH at every birth.

Keywords

Hip dislocation, congenital/diagnosis/genetics, pedigree, polymorphism, genetic

Bir ailenin 16 üyesinde otozomal dominant kalıtım gösteren gelişimsel kalça çıkığı

Year 2008, Volume: 42 Issue: 4, 289 - 291, 18.12.2008

Gülay Ceylaner Serdar Ceylaner Fulya Üstünkan Muharrem İnan

Abstract

Genetik faktörlerin kalça çıkığı, asetabüler displazi ve gelişimsel kalça displazisi (GKD) üzerine etkileri uzun zamandır bilinmektedir. Bu yazıda, oldukça nadir bir durum olan tek gen kalıtımı gösteren GKD’li bir aile sunuldu. Hamile bir kadının pedigri analizi sırasında 16 aile ferdinde GKD öyküsü olduğu öğrenildi. Pedigri analizi düşük penetranslı otozomal dominant kalıtım göstermesine karşın, GKD’li olgu sayısının yüksek olduğu (aile bireylerinin neredeyse üçte biri) ve sadece bir kuşak atladığı görüldü. Olguların üçü kliniğimizde değerlendirildi ve bu hastalara GKD tanısı kondu. Diğer 13 hastaya daha önce başka kliniklerde tanı konmuştu. Kalça çıkığı genellikle çok geç tespit edilmekle beraber, dört olguda tanı doğum sırasında konmuştu. Aile bireyleri ayrıntılı bir klinik mektup ile bilgilendirildi ve aileye her doğumu takiben değerlendirme önerildi.

Keywords

Hip dislocation, congenital/diagnosis/genetics; pedigree; polymorphism, genetic.

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Details

Primary Language	English
Subjects	Health Care Administration
Journal Section	Case Report
Authors	Gülay Ceylaner This is me Serdar Ceylaner This is me Fulya Üstünkan This is me Muharrem İnan This is me
Publication Date	December 18, 2008
Published in Issue	Year 2008 Volume: 42 Issue: 4

Cite

APA	Ceylaner, G., Ceylaner, S., Üstünkan, F., İnan, M. (2008). Autosomal dominant inheritance of congenital dislocation of the hip in 16 members of a family. Acta Orthopaedica Et Traumatologica Turcica, 42(4), 289-291.
AMA	Ceylaner G, Ceylaner S, Üstünkan F, İnan M. Autosomal dominant inheritance of congenital dislocation of the hip in 16 members of a family. Acta Orthopaedica et Traumatologica Turcica. December 2008;42(4):289-291.
Chicago	Ceylaner, Gülay, Serdar Ceylaner, Fulya Üstünkan, and Muharrem İnan. “Autosomal Dominant Inheritance of Congenital Dislocation of the Hip in 16 Members of a Family”. Acta Orthopaedica Et Traumatologica Turcica 42, no. 4 (December 2008): 289-91.
EndNote	Ceylaner G, Ceylaner S, Üstünkan F, İnan M (December 1, 2008) Autosomal dominant inheritance of congenital dislocation of the hip in 16 members of a family. Acta Orthopaedica et Traumatologica Turcica 42 4 289–291.
IEEE	G. Ceylaner, S. Ceylaner, F. Üstünkan, and M. İnan, “Autosomal dominant inheritance of congenital dislocation of the hip in 16 members of a family”, Acta Orthopaedica et Traumatologica Turcica, vol. 42, no. 4, pp. 289–291, 2008.
ISNAD	Ceylaner, Gülay et al. “Autosomal Dominant Inheritance of Congenital Dislocation of the Hip in 16 Members of a Family”. Acta Orthopaedica et Traumatologica Turcica 42/4 (December 2008), 289-291.
JAMA	Ceylaner G, Ceylaner S, Üstünkan F, İnan M. Autosomal dominant inheritance of congenital dislocation of the hip in 16 members of a family. Acta Orthopaedica et Traumatologica Turcica. 2008;42:289–291.
MLA	Ceylaner, Gülay et al. “Autosomal Dominant Inheritance of Congenital Dislocation of the Hip in 16 Members of a Family”. Acta Orthopaedica Et Traumatologica Turcica, vol. 42, no. 4, 2008, pp. 289-91.
Vancouver	Ceylaner G, Ceylaner S, Üstünkan F, İnan M. Autosomal dominant inheritance of congenital dislocation of the hip in 16 members of a family. Acta Orthopaedica et Traumatologica Turcica. 2008;42(4):289-91.