Literature DB >> 20450310

Epibulbar lipodermoids, preauricular appendages and polythelia in four generations: a new hereditary syndrome?

Ernst Goldschmidt1, Nina Jacobsen.   

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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Year:  2010        PMID: 20450310     DOI: 10.3109/13816811003767136

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN: 1381-6810            Impact factor:   1.803


  1 in total

1.  Familial polythelia associated with dental anomalies: a case report.

Authors:  Gabriel M Fonseca; Mario Cantín
Journal:  Colomb Med (Cali)       Date:  2014-03-30
  1 in total

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