Literature DB >> 15531852

Bilateral congenital split hand with tibial aplasia.

Rathika Shenoy1, Nutan Kamath.   

Abstract

The authors report on a child with bilateral typical split-hand (ectrodactyly) and tibial aplasia, probably the first Indian report. Minor limb malformations in the maternal side suggests an autosomal dominant inheritance. The clinical spectrum and the inheritance of this malformation are discussed. Prenatal screening in families with such malformations is essential.

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Year:  2004        PMID: 15531852

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  2 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.  Split-hand/feet malformation in three tamilian families and review of the reports from India.

Authors:  S Deepak Amalnath; Maya Gopalakrishnan; Tarun Kumar Dutta
Journal:  Indian J Hum Genet       Date:  2014-01
  2 in total

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