Literature DB >> 1112852

Autosomal dominant inheritance of tibial meromelia. Report of a kindred.

M W Clark.   

Abstract

Three generations of a family demonstrated an autosomal dominant transmission of congenital absence of the tibia. Nine family members were affected, six in the first generation. Male-to-male, male-to-female, and female-to-female transmission occurred. This is the fourteenth case reported to document familial occurrence of tibial meromelia, and the first to document this mode of inheritance.

Entities:  

Mesh:

Year:  1975        PMID: 1112852

Source DB:  PubMed          Journal:  J Bone Joint Surg Am        ISSN: 0021-9355            Impact factor:   5.284


  8 in total

1.  Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation.

Authors:  Christina A Gurnett; Farhang Alaee; Lisa M Kruse; David M Desruisseau; Jacqueline T Hecht; Carol A Wise; Anne M Bowcock; Matthew B Dobbs
Journal:  Am J Hum Genet       Date:  2008-10-23       Impact factor: 11.025

Review 2.  [Congenital tibial hemimelia].

Authors:  S Farr; R Ganger; F Grill
Journal:  Orthopade       Date:  2014-11       Impact factor: 1.087

Review 3.  Systematic radiographic evaluation of tibial hemimelia with orthopedic implications.

Authors:  Katia Kaplan-List; Nina B Klionsky; James O Sanders; Michael E Katz
Journal:  Pediatr Radiol       Date:  2017-01-03

4.  A pair of sibs with tibial hemimelia born to phenotypically normal parents.

Authors:  Juntaro Matsuyama; Akihiko Mabuchi; Junwei Zhang; Aritoshi Iida; Toshiyuki Ikeda; Mamori Kimizuka; Shiro Ikegawa
Journal:  J Hum Genet       Date:  2003-03-11       Impact factor: 3.172

Review 5.  Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder.

Authors:  L B Holmes; R W Redline; D L Brown; A J Williams; T Collins
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318

Review 6.  Tibial hemimelia: new classification and reconstructive options.

Authors:  Dror Paley
Journal:  J Child Orthop       Date:  2016-12-01       Impact factor: 1.548

Review 7.  Deformity Reconstruction Surgery for Tibial Hemimelia.

Authors:  David Y Chong; Dror Paley
Journal:  Children (Basel)       Date:  2021-05-31

8.  A rare case of tibial hemimelia, surgical technique and clinical results.

Authors:  Marco Basso; Valentina Camurri; Piero Frediani; Silvio Boero
Journal:  Acta Orthop Traumatol Turc       Date:  2017-12-14       Impact factor: 1.511

  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.