A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation.
Am J Med Genet A
; 161A(10): 2600-3, 2013 Oct.
Article
em En
| MEDLINE
| ID: mdl-23950000
ABSTRACT
A male infant, born at 32 weeks gestation by cesarean because of hydrops fetalis, presented with multiple anomalies, such as sparse and curly scalp hair, absent eyebrows, frontal bossing, an atrial septal defect, pulmonary artery stenosis, and whole myocardial thickening. He was clinically diagnosed with cardio-facio-cutaneous (CFC) syndrome, and was confirmed to have a germline V-raf murine sarcoma viral oncogene homologue B1 (BRAF) c.721 A>C mutation. At 1 month of age, he presented with a transient myelodysplastic/myeloproliferative neoplasm (MDS/MPN), which improved within a month without the administration of antineoplastic agents. This is the first report of CFC syndrome with MDS/MPN. The coexistence of MDS/MPN may be related to this BRAF c.721 A>C mutation.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Displasia Ectodérmica
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Síndrome de Down
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Mutação em Linhagem Germinativa
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Proteínas Proto-Oncogênicas B-raf
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Insuficiência de Crescimento
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Cardiopatias Congênitas
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Reação Leucemoide
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
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Male
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Newborn
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Japão