MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation.
J Pediatr
; 167(2): 489-91, 2015 Aug.
Article
em En
| MEDLINE
| ID: mdl-26003998
ABSTRACT
We report a child with hypoinsulinemic hypoglycemia and distinctive facies, with a diagnosis of the previously described MORFAN (Mental retardation, pre- and post-natal Overgrowth, Remarkable Face, and Acanthosis Nigricans) syndrome of unknown etiology. Whole-exome sequencing revealed a de novo AKT2 mutation. Although AKT2 has been implicated in four patients with hypoinsulinemic hypoglycemia, our report expands phenotypic spectrum to include MORFAN syndrome characteristics.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Fácies
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Hiperinsulinismo Congênito
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Proteínas Proto-Oncogênicas c-akt
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Acantose Nigricans
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Transtornos do Crescimento
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Deficiência Intelectual
Limite:
Female
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Humans
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Infant
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
2015
Tipo de documento:
Article