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Article

Colon hypoganglionosis in Beckwith-Wiedemann syndrome: a new rare comorbidity?

Clinical dysmorphology - 1 Jan 2022

Cazzaniga Laura, Parma Barbara, Licini Lisa, Dalla Rosa Davide, Cheli Maurizio, Selicorni Angelo

Abstract excerpt

We describe the case of a patient with a clinical and molecular diagnosis of Beckwith-Wiedemann Syndrome (BWS) and a clinical, radiologic and histologic diagnosis of colon isolated hypoganglionosis. BWS is a genetic multisystem disorder characterized by generalized and lateralized overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia and predisposition to embryonal tumors (Brioude et al., Nat...

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PMID: 34561316
DOI: 10.1097/MCD.0000000000000390

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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