Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia.
Am J Med Genet A
; 127A(2): 212-6, 2004 Jun 01.
Article
in En
| MEDLINE
| ID: mdl-15108215
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ectodermal Dysplasia
/
Epilepsy
Type of study:
Diagnostic_studies
/
Risk_factors_studies
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2004
Document type:
Article
Affiliation country:
Italy