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2023•International Journal of Research in Medical SciencesOpen access

Omphalocele and macroglossia: a case of Beckwith-Wiedemann syndrome

Shafqat Mahmood, Muhammad Tanveer Alam

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Abstract

Beckwith-Wiedemann syndrome (BWS) is a pediatric overgrowth disorder which predisposes to tumor development. The following case study examined a prenatal finding of omphalocele with postnatal findings of macroglossia and cutaneous hemangioma, ultimately leading to a diagnosis of BWS. This case highlighted the features of BWS, the diagnostic principles and the importance of a multidisciplinary team approach to its management.

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Beckwith-Wiedemann syndrome (BWS) is a pediatric overgrowth disorder which predisposes to tumor development. The following case study examined a prenatal finding of omphalocele with postnatal findings of macroglossia and cutaneous hemangioma, ultimately leading to a diagnosis of BWS. This case highlighted the features of BWS, the diagnostic principles and the importance of a multidisciplinary team approach to its management.

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Available abstract

Beckwith-Wiedemann syndrome (BWS) is a pediatric overgrowth disorder which predisposes to tumor development. The following case study examined a prenatal finding of omphalocele with postnatal findings of macroglossia and cutaneous hemangioma, ultimately leading to a diagnosis of BWS. This case highlighted the features of BWS, the diagnostic principles and the importance of a multidisciplinary team approach to its management.

Key concepts: Macroglossia, Beckwith–Wiedemann syndrome, Omphalocele, Medicine, Hemihypertrophy, Pediatrics, Tongue, Surgery

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