Literature DB >> 2748235

Bilateral split-hand with bilateral tibial aplasia.

R N Sener1, E Isikan, H B Diren, B S Sayli, F Sener.   

Abstract

The familial type of congenital split-hand associated with aplasia of the tibia is a very rare anomaly. Moreover, bilateral involvement of the hands and legs of the individual case is much rarer. In this paper, a case showing bilateral split-hand associated with bilateral tibial aplasia is presented, being the fourth case reported in the literature. The relevant literature is also reviewed.

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Year:  1989        PMID: 2748235     DOI: 10.1007/bf02386848

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  2 in total

1.  Bilateral tibial aplasia with lobster-claw hands. A rare genetic entity.

Authors:  W A Mnaymneh
Journal:  Acta Paediatr Scand       Date:  1973-01

2.  [4 cases of bilateral split-hand with bilateral atresia of the tibia in a family].

Authors:  T Takahashi; M Yamamoto; Y Mochizuki
Journal:  Seikei Geka       Date:  1968-01
  2 in total
  3 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.  Tetra-oligodactyly with bilateral aplasia and hypoplasia of long bones of upper and lower limbs: a variable manifestation of the syndrome of ectrodactyly with tibial aplasia.

Authors:  R N Sener; B S Sayli; U E Isikan; A R Ormeci; M Unsal; M Tigdemir
Journal:  Pediatr Radiol       Date:  1990

3.  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

  3 in total

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