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

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; Terrosi-Vagnoli, P; Volterrani, L; Molinelli, M; Burlina, A B; Swift, J A; Fimiani, M

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; Terrosi-Vagnoli, P; Volterrani, L; Molinelli, M; Burlina, A B; Swift, J A; Fimiani, M.

Afiliación

Zannolli R; Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy. zannolli@unisi.it

Am J Med Genet A ; 127A(2): 212-6, 2004 Jun 01.

Article en En | MEDLINE | ID: mdl-15108215

RESUMEN

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.

Asunto(s)

Displasia Ectodérmica/fisiopatología; Epilepsia/fisiopatología; Adulto; Blefaroptosis/complicaciones; Enfermedades Óseas Metabólicas/complicaciones; Encéfalo/diagnóstico por imagen; Displasia Ectodérmica/complicaciones; Displasia Ectodérmica/diagnóstico; Epilepsia/complicaciones; Femenino; Trastornos del Crecimiento/complicaciones; Humanos; Hipertelorismo/complicaciones; Discapacidad Intelectual/complicaciones; Imagen por Resonancia Magnética; Miopía/complicaciones; Radiografía; Piel/patología; Columna Vertebral/diagnóstico por imagen

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Displasia Ectodérmica / Epilepsia Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Adult / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2004 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Estados Unidos

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