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An unusual ectodermal dysplasia with unique eye defects
Author(s) -
Hill V.A.,
Nischal K.K.,
Collin J.R.O.,
Harper J.I.
Publication year - 2005
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.2004.06366.x
Subject(s) - ectodermal dysplasia , medicine , eyelid , microphthalmos , anatomy , dermatology , dysplasia , pathology , ophthalmology
Summary We report a 12‐year‐old boy with dental, auricular, nasolacrimal duct and unique eyelid anomalies as well as cribriform scrotal atrophy. We believe this is the first description of such a case, although many of the features fit within the spectrum of the ankyloblepharon/ectodermal dysplasia/clefting (AEC) syndrome.