Literature DB >> 6711611

Isolated tibial hemimelia in sibs: an autosomal-recessive disorder?

M McKay, S K Clarren, R Zorn.   

Abstract

Isolated tibial hemimelia is generally considered to occur sporadically. We report on isolated tibial hemimelia in two sibs born to phenotypically normal parents and review a similar case from the literature. These cases suggest autosomal-recessive inheritance. Whether isolated tibial hemimelia represents a discrete syndrome or an expression of a disorder with wider phenotypic variability remains unclear.

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Mesh：

Year:  1984        PMID： 6711611     DOI： 10.1002/ajmg.1320170308

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  10 in total

1.  Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.

Authors:  Mohammed Naveed; Swapan K Nath; Mathew Gaines; Mahmoud T Al-Ali; Najib Al-Khaja; David Hutchings; Jeffrey Golla; Samuel Deutsch; Armand Bottani; Stylianos E Antonarakis; Uppala Ratnamala; Uppala Radhakrishna
Journal:  Am J Hum Genet       Date:  2006-11-29       Impact factor: 11.025

Review 2.  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

3.  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

4.  Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance.

Authors:  F Majewski; W Küster; B ter Haar; T Goecke
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

5.  Tibial hemimelia associated with GLI3 truncation.

Authors:  Steven Deimling; Chris Sotiropoulos; Kimberly Lau; Sonia Chaudhry; Kendra Sturgeon; Simon Kelley; Unni Narayanan; Andrew Howard; Chi-Chung Hui; Sevan Hopyan
Journal:  J Hum Genet       Date:  2016-01-21       Impact factor: 3.172

Review 6.  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

7.  Co-clustering phenome-genome for phenotype classification and disease gene discovery.

Authors:  TaeHyun Hwang; Gowtham Atluri; MaoQiang Xie; Sanjoy Dey; Changjin Hong; Vipin Kumar; Rui Kuang
Journal:  Nucleic Acids Res       Date:  2012-06-26       Impact factor: 16.971

Review 8.  Tibial hemimelia: new classification and reconstructive options.

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

9.  Elucidating the genetic basis of an oligogenic birth defect using whole genome sequence data in a non-model organism, Bubalus bubalis.

Authors:  Lynsey K Whitacre; Jesse L Hoff; Robert D Schnabel; Sara Albarella; Francesca Ciotola; Vincenzo Peretti; Francesco Strozzi; Chiara Ferrandi; Luigi Ramunno; Tad S Sonstegard; John L Williams; Jeremy F Taylor; Jared E Decker
Journal:  Sci Rep       Date:  2017-01-03       Impact factor: 4.379

Review 10.  Deformity Reconstruction Surgery for Tibial Hemimelia.

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

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