Literature DB >> 12514367

Sensorineural hearing loss and enamel hypoplasia with subtle nail findings: another family with Heimler's syndrome.

C Pollak1, M Floy, B Say.   

Abstract

We report a pair of siblings who exhibit findings similar to those described in Heimler's syndrome, namely sensori- neural hearing loss diagnosed after the first year of life and enamel hypoplasia with normal primary dentition. Nail findings of Beau's lines and leukonychia which were described in the previous cases are absent to questionable in our patients. Our findings support the theory of autosomal recessive inheritance for Heimler's syndrome. To our knowledge there have been only three cases reported previously and the gene location has yet to be determined.

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Year:  2003        PMID: 12514367     DOI: 10.1097/00019605-200301000-00010

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  4 in total

1.  Macular dystrophy in Heimler syndrome.

Authors:  Luiz H Lima; Irene A Barbazetto; Royce Chen; Lawrence A Yannuzzi; Stephen H Tsang; Richard F Spaide
Journal:  Ophthalmic Genet       Date:  2011-03-02       Impact factor: 1.803

2.  Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

Authors:  Claire E L Smith; James A Poulter; Alex V Levin; Jenina E Capasso; Susan Price; Tamar Ben-Yosef; Reuven Sharony; William G Newman; Roger C Shore; Steven J Brookes; Alan J Mighell; Chris F Inglehearn
Journal:  Eur J Hum Genet       Date:  2016-06-15       Impact factor: 4.246

3.  Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female.

Authors:  Maria Rosaria Barillari; Marianthi Karali; Valentina Di Iorio; Maria Contaldo; Vincenzo Piccolo; Maria Esposito; Giuseppe Costa; Giuseppe Argenziano; Rosario Serpico; Marco Carotenuto; Gerarda Cappuccio; Sandro Banfi; Paolo Melillo; Francesca Simonelli
Journal:  Mol Genet Metab Rep       Date:  2020-06-20

4.  Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

Authors:  Ilham Ratbi; Kim D Falkenberg; Manou Sommen; Nada Al-Sheqaih; Soukaina Guaoua; Geert Vandeweyer; Jill E Urquhart; Kate E Chandler; Simon G Williams; Neil A Roberts; Mustapha El Alloussi; Graeme C Black; Sacha Ferdinandusse; Hind Ramdi; Audrey Heimler; Alan Fryer; Sally-Ann Lynch; Nicola Cooper; Kai Ren Ong; Claire E L Smith; Christopher F Inglehearn; Alan J Mighell; Claire Elcock; James A Poulter; Marc Tischkowitz; Sally J Davies; Abdelaziz Sefiani; Aleksandr A Mironov; William G Newman; Hans R Waterham; Guy Van Camp
Journal:  Am J Hum Genet       Date:  2015-09-17       Impact factor: 11.025

  4 in total

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