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Developmental Dysplasia of Hip: Perspectives in Genetic Screening

Department of Orthopaedics, Faculty of Medicine, Comenius University and National Institute of Children’s Diseases, Limbova 1, 833 40 Bratislava, Slovakia
Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University, Sasinkova 4, 811 08 Bratislava, Slovakia
Department of Internal Medicine, Faculty of Medicine, Alexandria University, Chamblion St., Azarita, 21131 Alexandria, Egypt
Author to whom correspondence should be addressed.
Med. Sci. 2019, 7(4), 59;
Received: 8 January 2019 / Revised: 16 February 2019 / Accepted: 10 April 2019 / Published: 11 April 2019
Development dysplasia of the hip (DDH) is a complex developmental disorder despite being a relatively common condition mainly caused by incompatibility of the femoral head and the abnormal joint socket. Development dysplasia of the hip describes a wide spectrum of disorders ranging from minor acetabular dysplasia to irreducible dislocation of the hip. Modern medicine still suffers from lack of information about screening and precise genetic examination. Genome wide linkage and association studies have brought significant progress to DDH diagnosis. Association studies managed to identify many candidate (susceptible) genes, such as PAPPA2, COL2A1, HOXD9, GDF-5, and TGFB1, which play a considerable role in the pathogenesis of DDH. Early detection of DDH has a big chance to help in preventing further disability and improve the psychological health and quality of life in those children. This emphasizes the importance to establish a universal screening program along with the genetic counseling. View Full-Text
Keywords: developmental dysplasia of hip; DDH screening; genetic factors; associated genes developmental dysplasia of hip; DDH screening; genetic factors; associated genes
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Zamborsky, R.; Kokavec, M.; Harsanyi, S.; Attia, D.; Danisovic, L. Developmental Dysplasia of Hip: Perspectives in Genetic Screening. Med. Sci. 2019, 7, 59.

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