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.

Zannolli, R., Buoni, S., Macucci, F., Miracco, C., DE SANTI, M.M., Bruni, E., et al. (2004). Hypertelorism, ptosis and myopia associated with drug-resistanr epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 127A(2), 212-216 [10.1002/ajmg.a.20692].

Hypertelorism, ptosis and myopia associated with drug-resistanr epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia.

ZANNOLLI, RAFFAELLA;BUONI, SABRINA;MACUCCI, FRANCESCA;MIRACCO, CLELIA;DE SANTI, MARIA MARGHERITA;MALANDRINI, ALESSANDRO;HADJISTILIANOU, THEODORA;MEDAGLINI, SERGIO;MAZZEI, MARIA ANTONIETTA;SACCO, PALMINO;VOLTERRANI, LUCA;MOLINELLI, MASSIMO CLAUDIO;FIMIANI, MICHELE;PIOMBONI, PAOLA
2004-01-01

Abstract

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
Zannolli, R., Buoni, S., Macucci, F., Miracco, C., DE SANTI, M.M., Bruni, E., et al. (2004). Hypertelorism, ptosis and myopia associated with drug-resistanr epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 127A(2), 212-216 [10.1002/ajmg.a.20692].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/44937
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