Literature DB >> 22876574

Warburg micro syndrome in two children from a highly inbred Turkish family.

M S Yildirim1, A G Zamani, B Bozkurt.   

Abstract

Warburg Micro syndrome (WMS) was first reported by Warburg in 1993. The cardinal features are microcephaly, microphthalmia, congenital cataract and intellectual disability. We report on two children from a highly inbred family with microcephaly, congenital cataract, optic atrophy, hypotonia and severe psychomotor retardation. This phenotype is similar to other reported rare entities and especially to the family reported by Warburg. Four other children in the same family may also have been affected. In this report, the symptoms and features of our cases are compared with the Warburg Micro syndrome patients in literature.

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Year:  2012        PMID: 22876574

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


  3 in total

1.  Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.

Authors:  Ryan P Liegel; Mark T Handley; Adam Ronchetti; Stephen Brown; Lars Langemeyer; Andrea Linford; Bo Chang; Deborah J Morris-Rosendahl; Sarah Carpanini; Renata Posmyk; Verity Harthill; Eamonn Sheridan; Ghada M H Abdel-Salam; Paulien A Terhal; Francesca Faravelli; Patrizia Accorsi; Lucio Giordano; Lorenzo Pinelli; Britta Hartmann; Allison D Ebert; Francis A Barr; Irene A Aligianis; Duska J Sidjanin
Journal:  Am J Hum Genet       Date:  2013-11-14       Impact factor: 11.025

2.  Novel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome.

Authors:  Nesrine Kerkeni; Maher Kharrat; Faouzi Maazoul; Hela Boudabous; Ridha M'rad; Mediha Trabelsi
Journal:  J Clin Neurol       Date:  2022-02-14       Impact factor: 3.077

3.  Warburg micro syndrome in siblings from India.

Authors:  Prabhjot Kaur Sekhon; R Premalatha; Sarala Sabapathy
Journal:  J Pediatr Neurosci       Date:  2016 Jan-Mar
  3 in total

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