Literature DB >> 3425598

Tibial hemimelia: report on 37 new cases, clinical and genetic considerations.

A Richieri-Costa1, I Ferrareto, D Masiero, C R da Silva.   

Abstract

We report on 37 patients belonging to different families, who have the tibial hemimelia-split hand/foot syndrome. Genetic aspects and phenotypic manifestations are compared with previous reports of tibial hemimelia. An attempt to clinical and genetical approach is suggested.

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Year:  1987        PMID： 3425598     DOI： 10.1002/ajmg.1320270414

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


  7 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

2.  Minor tibial duplication: a new cause of congenital bowing of the tibia.

Authors:  C Adamsbaum; G Kalifa; R Seringe; J C Bonnet
Journal:  Pediatr Radiol       Date:  1991

3.  Usual Presentation Has Odds: Unilateral Tibial Hemimelia in One of Dizygotic Twins.

Authors:  Muath Mamdouh Mahmod Al-Chalabi; Wan Azman Wan Sulaiman
Journal:  Cureus       Date:  2021-01-21

Review 4.  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

5.  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

6.  A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3.

Authors:  Karina Lezirovitz; Sylvia Regina Pedrosa Maestrelli; Nelson Henderson Cotrim; Paulo A Otto; Peter L Pearson; Regina Celia Mingroni-Netto
Journal:  Hum Genet       Date:  2008-05-21       Impact factor: 4.132

7.  A case of bilateral tibial hemimelia type VIIa.

Authors:  Selvakumar Chinnakkannan; Rashmi Ranjan Das; K Rughmini; Sufath Ahmed
Journal:  Indian J Hum Genet       Date:  2013-01
  7 in total

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