Syndrome in question
| Autor: | Vania Mesquita Gadelha Prazeres, Patrícia Bandeira de Melo Akel, Ana Maria Carreño, Gabriel Maroja Ihara, Caroline Albuquerque Rodrigues Chirano, Isy Lima Peixoto |
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| Rok vydání: | 2014 |
| Předmět: | |
| Zdroj: | Anais Brasileiros de Dermatologia, Vol 89, Iss 6, Pp 1005-1006 (2014) |
| ISSN: | 0365-0596 |
| DOI: | 10.1590/abd1806-4841.20143062 |
| 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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