Trichorrhexis Nodosa and lip pits in autosomal dominant ectodermal dysplasia—central nervous system malformation syndrome
| Autor: | Anna Pietragalla, Laura Jarre, Margherita Silengo |
|---|---|
| Rok vydání: | 1997 |
| Předmět: |
Central Nervous System
Ectodermal dysplasia Central nervous system Ectodermal Dysplasia Intellectual Disability Humans Medicine Abnormalities Multiple Child Genetics (clinical) Genes Dominant biology business.industry Trichorrhexis nodosa Syndrome Anatomy Middle Aged biology.organism_classification medicine.disease Pedigree medicine.anatomical_structure Submucous cleft palate Female business Cabello Hair |
| Zdroj: | American Journal of Medical Genetics. 71:226-228 |
| ISSN: | 1096-8628 0148-7299 |
| Popis: | A Dandy-Walker-like malformation was observed in a retarded girl who had signs of hidrotic ectodermal dysplasia. This is the third report of the rare triad ectodermal dysplasia-CNS malformation-mental retardation. We observed additional findings, such as submucous cleft palate with lip pits and trichorrhexis nodosa. The proposita's mother had similar hair and facial changes. Two maternal relatives had cleft palate. Autosomal dominant inheritance is suggested. |
| Databáze: | OpenAIRE |
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