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Epibulbar Lipodermoids, Preauricular Appendages and Polythelia in Four Generations: a New Hereditary Syndrome?

Overview
Publisher Informa Healthcare
Specialties Genetics
Ophthalmology
Date 2010 May 11
PMID 20450310
Citations 1
Authors
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Abstract

A new syndrome with abnormalities along the first branchial arch and the milk list is described in a family of four affected generations. The characteristics of the syndrome are epibulbar lipodermoids, preauricular appendages and polythelia. The expressivity varies but all affected have supernumerary nipples and preauricular manifestations while visible epibulbar lipodermoids do not seem obligatory. The syndrome has a typical dominant pattern of heredity.

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Fonseca G, Cantin M Colomb Med (Cali). 2014; 45(1):45-7.

PMID: 24970959 PMC: 4045223.