Beckwith-Wiedemann syndrome in a newborn
| Author | T Eghbalian | en |
| Issued Date | 2005-03-31 | en |
| Abstract | Abstract Beckwith-Wiedemann Syndrome is a congenital growth disorder with unknown etiology which correlates with a number and genetic disorders. The prevalence of this syndrome is 1/15000 live birth and the mortality rate is 20% due to complication of prematurity, emphalocele, macroglossia, neonatal hypoglycemia and rarely cardiomyopathy. The basis for diagnosis includes at least two major and one minor criteria. This article presents a 7 hours old neonate with emphalocele, macroglossia and late neonatal hypoglycemia. Having diagnosed as BWS, the patient underwent for repair of abdominal wall defect, correction of hypoglycemia and abdominal sonography to assess the embryonal tumors. A serum insulin level measurement plus an isotope scan on pancreas to determine the cause of hypoglycemia were requested. | en |
| DOI | https://doi.org/ | en |
| Keyword | Keywords: Medical Genetics | en |
| Keyword | Beckwith-Wiedemann | en |
| Keyword | Infancy and Childhood Mortality | en |
| Keyword | Premature Infant | en |
| Keyword | Neonatal Abnormalities | en |
| Keyword | Hypoglycemia | en |
| Publisher | Brieflands | en |
| Title | Beckwith-Wiedemann syndrome in a newborn | en |
| Type | Case Report | en |
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