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Hypertelorism, ptosis, and myopia associated with drug‐resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia
Author(s) -
Zannolli R.,
Buoni S.,
Macucci F.,
Miracco C.,
de Santi M.M.,
Piomboni P.,
Bruni E.,
Malandrini A.,
Galluzzi P.,
Hadjistilianou T.,
Medaglini S.,
Mazzei M.A.,
Sacco P.,
TerrosiVagnoli P.,
Volterrani L.,
Molinelli M.,
Burlina A.B.,
Swift J.A.,
Fimiani M.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20692
Subject(s) - hypertelorism , ptosis , medicine , osteopenia , epilepsy , pediatrics , audiology , surgery , anatomy , endocrinology , psychiatry , bone mineral , osteoporosis
We report a 30‐year‐old woman with hypertelorism, ptosis, and myopia associated with drug‐resistant epilepsy (DRE, Lennox–Gastaut syndrome), mental delay, growth deficiency, ectodermal defects, and osteopenia. To the best of our knowledge, this patient has an unusual combination of symptoms not previously described, associated with severe central nervous system dysfunction. The ectodermal defects were present in a very intriguing form, were difficult to diagnose, and did not conform to any classification or previous description. © 2004 Wiley‐Liss, Inc.