Beckwith-Wiedemann Syndrome- A Rare Case Report
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Date
2019-10
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
JK Science
Abstract
Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder with classical features of macroglossia,exomphalocele and gigantism. Estimated incidence rate of BWS is 1in 13,700 in population. The incidence ofBWS is equal in both the sexes. We got a rare case of Beckwith-Wiedemann syndrome in our NICU. Thediagnosis is made by clinical findings suggestive of BWS. Baby born with a macroglossia and abdominal walldefects (exomphalocele), ear anomalies, renal abnormalities seen under ultrasound and neonatal hypoglycemia.Additional supportive findings were polyhydramnios and LGA baby, cardiomegaly, hemangioma over face,enlarged placenta and characteristic facies and infraorbital creases.
Description
Keywords
Beckwith-Wiedemann syndrome, Macroglossia, Wilms tumour, Exomphalos
Citation
Arora Amandeep, Gupta Monika. Beckwith-Wiedemann Syndrome- A Rare Case Report. JK Science Journal of Medical Education and Research. 2019 Oct; 2019 Oct: 193-194