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An unusual ectodermal dysplasia with unique eye defects

✍ Scribed by V.A. Hill; K.K. Nischal; J.R.O. Collin; J.I. Harper

Book ID
108667897
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
160 KB
Volume
152
Category
Article
ISSN
0007-0963

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## Abstract We report on an 18‐year‐old woman, born to first‐cousin parents, presenting with a severe form of anhydrotic ectodermal dysplasia (EDA/HED). She had sparse hair, absent limb hair, absent sweating, episodes of hyperpyrexia, important hypodontia, and hyperconvex nails. She also showed unu