Beckwith-Wiedemann syndrome associated with congenital hypothyroidism in a preterm neonate: a case report and literature review.
J Perinatol
; 29(6): 455-7, 2009 Jun.
Article
em En
| MEDLINE
| ID: mdl-19474816
ABSTRACT
This report describes for the first time the association of Beckwith-Wiedemann syndrome (BWS) and hypothyroidism in a 25 weeks preterm neonate. Antenatal diagnosis of exomphalos in association with postnatal transient hypoglycemia and macroglossia formed the basis of the diagnosis of BWS. Primary hypothyroidism was detected on routine Guthrie card examination. Molecular DNA analysis demonstrated biparental inheritance of chromosome 11p15.5. Dosage analysis of differently methylated region showed evidence of loss of maternal methylation at KvDMR1.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Beckwith-Wiedemann
/
Hipotireoidismo Congênito
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
/
Systematic_reviews
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
J Perinatol
Assunto da revista:
PERINATOLOGIA
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Reino Unido