Literature DB >> 21834032

Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance.

Pelin Özlem Şimşek Kiper1, Gülen Eda Utine, Koray Boduroğlu, Yasemin Alanay.   

Abstract

We describe a 3-month-old male infant with cleft palate, glossoptosis, micrognathia, and bilateral clinodactyly, an association which is characteristic of Catel-Manzke syndrome. In addition, the patient had ligamentous laxity in the knee which is a rare finding of this syndrome. The mode of inheritance of Catel-Manzke syndrome is unknown. Most cases are thought to be sporadic but the present patient with consanguinity between the parents and a possibly affected sib provide support for autosomal recessive inheritance.
Copyright © 2011 Wiley-Liss, Inc.

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Year:  2011        PMID: 21834032     DOI: 10.1002/ajmg.a.34163

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  2 in total

1.  Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Authors:  Nadja Ehmke; Almuth Caliebe; Rainer Koenig; Sarina G Kant; Zornitza Stark; Valérie Cormier-Daire; Dagmar Wieczorek; Gabriele Gillessen-Kaesbach; Kirstin Hoff; Amit Kawalia; Holger Thiele; Janine Altmüller; Björn Fischer-Zirnsak; Alexej Knaus; Na Zhu; Verena Heinrich; Celine Huber; Izabela Harabula; Malte Spielmann; Denise Horn; Uwe Kornak; Jochen Hecht; Peter M Krawitz; Peter Nürnberg; Reiner Siebert; Hermann Manzke; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2014-12-04       Impact factor: 11.025

2.  Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS.

Authors:  Rachel Pferdehirt; Mahim Jain; Maria A Blazo; Brendan Lee; Lindsay C Burrage
Journal:  Mol Genet Metab Rep       Date:  2015-09-01
  2 in total

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