Literature DB >> 19060525

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

Gülay Ceylaner1, Serdar Ceylaner, Fulya Ustünkan, Muharrem Inan.   

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.

Entities:  

Mesh:

Year:  2008        PMID: 19060525     DOI: 10.3944/aott.2008.289

Source DB:  PubMed          Journal:  Acta Orthop Traumatol Turc        ISSN: 1017-995X            Impact factor:   1.511


  5 in total

1.  Abnormal expression of Pappa2 gene may indirectly affect mouse hip development through the IGF signaling pathway.

Authors:  Yufan Chen; Lianyong Li; Enbo Wang; Lijun Zhang; Qun Zhao
Journal:  Endocrine       Date:  2019-06-05       Impact factor: 3.633

2.  Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip.

Authors:  Sulman Basit; Alia M Albalawi; Essa Alharby; Khalid I Khoshhal
Journal:  BMC Med Genet       Date:  2017-03-21       Impact factor: 2.103

3.  Assessing the risk of asymptomatic dysplasia in parents of children with developmental hip dysplasia.

Authors:  Tacettin Ayanoglu; Muhammet Baybars Ataoglu; Nil Tokgöz; Elif Ersöz; Hakan Atalar; Sacit Turanlı
Journal:  Acta Orthop Traumatol Turc       Date:  2019-08-07       Impact factor: 1.511

4.  Establishment of pediatric developmental dysplasia of the hip biobank: Shanghai children's hospital experience.

Authors:  Dan Yang; Shiqi Wang; Chenghui Ke; Qichao Ma; Lingyan Fan; Yichen Wang; Mengjie Chen; Hao Ying; Sun Wang; Qin Jiao; Yang Shen; Lihua Zhao
Journal:  Cell Tissue Bank       Date:  2022-02-25       Impact factor: 1.752

Review 5.  The epidemiology and demographics of hip dysplasia.

Authors:  Randall T Loder; Elaine N Skopelja
Journal:  ISRN Orthop       Date:  2011-10-10
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.