Syndrome in question. Costello syndrome
| Autor: | Isy Lima, Peixoto, Ana Maria, Carreno, Vania Mesquita Gadelha, Prazeres, Caroline Albuquerque Rodrigues, Chirano, Gabriel Maroja, Ihara, Patricia Bandeira de Melo, Akel |
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| Rok vydání: | 2013 |
| Předmět: | |
| Zdroj: | Anais Brasileiros de Dermatologia |
| ISSN: | 1806-4841 |
| Popis: | Costello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects. There is an increased risk of malignancies in these patients, due to the proto-oncogene mutation, and also sudden death secondary to heart disease. We report a case with characteristic phenotype, highlighting the peculiar skin changes. |
| Databáze: | OpenAIRE |
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