Genetics of developmental dysplasia of the hip.

European Journal of Medical Genetics
Stefan HarsanyiLubos Danisovic

Abstract

In the last decade, the advances in the molecular analyses and sequencing techniques allowed researchers to study developmental dysplasia of the hip (DDH) more thoroughly. Certain chromosomes, genes, loci and polymorphisms are being associated with variable severity of this disorder. The wide range of signs and symptoms is dependent either on isolated or systemic manifestation. Phenotypes of isolated cases range from only a mild ligamental laxity, through subluxation, to a complete dislocation of the femoral head. Systemic manifestation is connected to various forms of skeletal dysplasia and other malformations characterized by significant genetic aberrations. To reveal the background of DDH heredity, multiple studies focused on large sample sizes with an emphasis on the correlation between genotype, phenotype and continuous clinical examination. Etiological risk factors that have been observed and documented in patients include genetic, environmental, and mechanical factors, which significantly contribute to the familial or nonfamilial occurrence and phenotypic variability of this disorder. Still, the multifactorial etiology and pathogenesis of DDH are not yet sufficiently clarified, explained, or understood. Formation of conn...Continue Reading

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Citations

Jan 5, 2021·Frontiers in Molecular Biosciences·Guangyao YangZhaowen Qiu
Oct 19, 2020·Orthopaedics & Traumatology, Surgery & Research : OTSR·Federico CanaveseAndreas Roposch
Jul 3, 2021·Medicina·Anca Angela SimionescuBogdan Crețu
Aug 22, 2021·Calcified Tissue International·Rebecca F ShepherdAdam M Taylor

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