Literature DB >> 10756427

A variant of Cenani-Lenz type syndactyly.

M Seven1, A Yüksel, A Ozkiliç, N Elçioğlu.   

Abstract

Cenani-Lenz syndrome is a form of complete syndactyly resembling the spoon hand in Apert syndrome. It is often associated with disorganization of phalanges, the fusion of metacarpals and mesomelic shortness of the arm. We describe an additional case of Cenani-Lenz type of syndactylism in a 16 month-old girl who also has rib and vertebral abnormalities and mixed type hearing loss, that have not been seen before in a single patient.

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Mesh：

Year:  2000        PMID： 10756427

Source DB:  PubMed          Journal:  Genet Couns        ISSN： 1015-8146


  3 in total

1.  LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

Authors:  Yun Li; Barbara Pawlik; Nursel Elcioglu; Mona Aglan; Hülya Kayserili; Gökhan Yigit; Ferda Percin; Frances Goodman; Gudrun Nürnberg; Asim Cenani; Jill Urquhart; Boi-Dinh Chung; Samira Ismail; Khalda Amr; Ayca D Aslanger; Christian Becker; Christian Netzer; Pete Scambler; Wafaa Eyaid; Hanan Hamamy; Jill Clayton-Smith; Raoul Hennekam; Peter Nürnberg; Joachim Herz; Samia A Temtamy; Bernd Wollnik
Journal:  Am J Hum Genet       Date:  2010-04-08       Impact factor: 11.025

2.  Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers.

Authors:  Rivka Sukenik Halevy; Huan-Chieh Chien; Bo Heinz; Michael J Bamshad; Deborah A Nickerson; Martin Kircher; Nadav Ahituv
Journal:  Hum Mutat       Date:  2018-03-22       Impact factor: 4.878

3.  Relating diseases by integrating gene associations and information flow through protein interaction network.

Authors:  Mehdi Bagheri Hamaneh; Yi-Kuo Yu
Journal:  PLoS One       Date:  2014-10-31       Impact factor: 3.240
  3 in total

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