Literature DB >> 3425613

Tibial hemimelia-cleft lip/palate in a Brazilian child born to consanguineous parents.

A Richieri-Costa1.   

Abstract

We report on a Brazilian boy with widely cleft lip and palate and bilateral tibial hemimelia. Normal consanguineous parents, unremarkable gestational antecedents, and normal peripheral lymphocytes and chromosomes suggest autosomal recessive inheritance.

Entities:  

Mesh：

Year:  1987        PMID： 3425613     DOI： 10.1002/ajmg.1320280209

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


  6 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

Review 4.  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

5.  Epidemiology, etiology, and genetic aspects of reduction deficiencies of the lower limb.

Authors:  Ismat Ghanem
Journal:  J Child Orthop       Date:  2008-04-09       Impact factor: 1.548

6.  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
  6 in total

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