title: Beckwith-Wiedemann syndrome associated with congenital hypothyroidism in a preterm neonate: a case report and literature review.
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.
authors.affiliation: Department of Neonatology, Regional Neonatal Intensive Care Unit, St George's Hospital, London, UK. GRamadan@aol.com
authors.forename: G I
authors.initials: GI
authors.lastname: Ramadan
authors.forename: N L
authors.initials: NL
authors.lastname: Kennea
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D003409:Congenital Hypothyroidism / Q000150:complications* / Q000235:genetics; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D016216:Ultrasonography, Prenatal