Congenital Dislocation of the Hip in Identical Twins

Geiser, M; Buri, P.

doi:10.1302/0301-620x.41b2.314

Cited by 9 publications

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“…In 4678 opposite sex twins, the relative risk of DDH was 0.13 for males compared to females [ 262 ]. Mirroring has been described in two sets of identical twins [ 263 , 264 ] with DDH; one twin had left DDH and the other right DDH. Both sets also had mirrored strabismus, and thumb sucking was mirrored in one set [ 263 ].…”

Section: Resultsmentioning

confidence: 99%

The Epidemiology and Demographics of Hip Dysplasia

2011

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The etiology of developmental dysplasia of the hip (DDH) is unknown. There are many insights, however, from epidemiologic/demographic information. A systematic medical literature review regarding DDH was performed. There is a predominance of left-sided (64.0%) and unilateral disease (63.4%). The incidence per 1000 live births ranges from 0.06 in Africans in Africa to 76.1 in Native Americans. There is significant variability in incidence within each racial group by geographic location. The incidence of clinical neonatal hip instability at birth ranges from 0.4 in Africans to 61.7 in Polish Caucasians. Predictors of DDH are breech presentation, positive family history, and gender (female). Children born premature, with low birth weights, or to multifetal pregnancies are somewhat protected from DDH. Certain HLA A, B, and D types demonstrate an increase in DDH. Chromosome 17q21 is strongly associated with DDH. Ligamentous laxity and abnormalities in collagen metabolism, estrogen metabolism, and pregnancy-associated pelvic instability are well-described associations with DDH. Many studies demonstrate an increase of DDH in the winter, both in the northern and southern hemispheres. Swaddling is strongly associated with DDH. Amniocentesis, premature labor, and massive radiation exposure may increase the risk of DDH. Associated conditions are congenital muscular torticollis and congenital foot deformities. The opposite hip is frequently abnormal when using rigorous radiographic assessments. The role of acetabular dysplasia and adult hip osteoarthritis is complex. Archeological studies demonstrate that the epidemiology of DDH may be changing.

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Section: Resultsmentioning

confidence: 99%

The Epidemiology and Demographics of Hip Dysplasia

2011

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“…Shallow acetabulum and lax capsule were considered to be the main causes of DDH [6,7]. Several family studies indicated that a considerable genetic component played an important role in the etiology of DDH [8-10]. A genome-wide screening from a large four-generation Japanese family of acetabular dysplasia had revealed a linkage between DDH and a specific region at chromosome 13 [11].…”

Section: Introductionmentioning

confidence: 99%

Association of the D repeat polymorphism in the ASPNgene with developmental dysplasia of the hip: a case-control study in Han Chinese

Shi

Dai

Zhu³

et al. 2011

Arthritis Res Ther

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IntroductionDevelopmental dysplasia of the hip (DDH) is a common skeletal disease, which is characterized by abnormal seating of the femoral head in the acetabulum. Genetic factors play a considerable role in the etiology of DDH. Asporin (ASPN) is an ECM protein which can bind to TGF-β1 and sequentially inhibit TGF-β/Smad signaling. A functional aspartic acid (D) repeat polymorphism of ASPN was first described as an osteoarthritis-associated polymorphism. As TGF-β is well known as an important regulator in the development of skeletal components, ASPN may also be involved in the etiology of DDH. Our objective is to evaluate whether the D repeat polymorphism of ASPN is associated with DDH in Han Chinese.MethodsThe D repeat polymorphism was genotyped in 370 DDH patients and 445 control subjects, and the allelic association of the D repeat was examined.ResultsFrom D11 to D18, eight alleles were identified. D13 allele is the most common allele both in control and DDH groups, the frequencies are 67.3% and 58.1% respectively. In the DDH group, a significantly higher frequency of the D14 allele and significantly lower frequency of D13 was observed. The association of D14 and D13 was found in both females and males after stratification by gender. There was no significant difference in any other alleles we examined.ConclusionsOur results show an obvious association between the D repeat polymorphism of ASPN and DDH. It indicates that ASPN is an important regulator in the etiology of DDH.

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“…Several family studies of CDH have showed that its prevalence was significantly higher in first-degree relatives of probands [ 7 - 9 ]. A study of identical twins indicated hereditary factors are of prime importance in CDH [ 10 ], and a genome-wide screening of a Japanese family with acetabular dysplasia identified a linkage on a limited location of the specific chromosome [ 11 ].…”

Section: Introductionmentioning

confidence: 99%

Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control study

Dai

Shi

Zhu³

et al. 2008

Arthritis Res Ther

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Introduction Congenital dysplasia of the hip is an abnormal seating of the femoral head in the acetabulum, mainly caused by shallow acetabulum and lax joint capsule. Genetic factors play a considerable role in the pathogenesis of congenital dysplasia of the hip. The gene growth differentiate factor 5 (GDF5) has been implicated in skeletal development and joint morphogenesis in humans and mice. A functional single nucleotide polymorphism (SNP) in the 5'-untranslated region of GDF5 (rs143383) was reported to be associated with osteoarthritis susceptibility. As a key regulator in morphogenesis of skeletal components and soft tissues in and around the joints, GDF5 may be involved in the aetiology and pathogenesis of congenital dysplasia of the hip. Our objective is to evaluate if the GDF5 SNP is associated with congenital dysplasia of the hip in people of Han Chinese origin.

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Congenital Dislocation of the Hip in Identical Twins

Cited by 9 publications

References 0 publications

The Epidemiology and Demographics of Hip Dysplasia

The Epidemiology and Demographics of Hip Dysplasia

Association of the D repeat polymorphism in the ASPNgene with developmental dysplasia of the hip: a case-control study in Han Chinese

Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control study

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