Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia.
Genet Med
; 11(3): 220-2, 2009 Mar.
Article
em En
| MEDLINE
| ID: mdl-19367194
ABSTRACT
Isolated hemihyperplasia, formerly termed isolated hemihypertrophy, is a congenital overgrowth disorder associated with an increased risk for embryonal tumors, mainly Wilms tumor and hepatoblastoma. This practice guideline will set forth the diagnostic criteria and tumor screening recommendations for children with isolated hemihyperplasia, based on the best information available. There is clinical overlap between isolated hemihyperplasia with Beckwith-Wiedemann syndrome. The majority of Beckwith-Wiedemann syndrome patients have a molecular abnormality involving the imprinted cluster of genes at 11p15.5. In contrast, the preponderance of isolated hemihyperplasia patients studied have no identified etiology. Tumors have developed in isolated hemihyperplasia patients with and without molecular abnormalities. For this reason, molecular diagnostics are not helpful in identifying the subset of isolated hemihyperplasia patients with tumor risk and all isolated hemihyperplasia patients should undergo tumor screening.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Guias de Prática Clínica como Assunto
/
Transtornos do Crescimento
/
Neoplasias
Tipo de estudo:
Diagnostic_studies
/
Guideline
/
Prognostic_studies
/
Screening_studies
Limite:
Child
/
Humans
Idioma:
En
Revista:
Genet Med
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Estados Unidos