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Article

Nissen fundoplication in Cornelia de Lange syndrome spectrum: Who are the potential candidates?

American journal of medical genetics. Part A - 1 Jul 2020

Parma Barbara, Cianci Paola, Mariani Milena, Cereda Anna, Panceri Roberto, Fossati Chiara, Maestri Luciano, Macchini Francesco, Onesimo Roberta, Zampino Giuseppe, Betalli Pietro, Cheli Maurizio, Selicorni Angelo

Abstract excerpt

Cornelia de Lange spectrum (CdLSp) is a rare genetic condition characterized by intellectual disability, facial dysmorphisms, major malformations, growth impairment, and development delay. Approximately 80% of CdLSp patients have gastroesophageal reflux disease (GERD) with a varied clinical presentation. The aim of this study is to define potential clinical/genetic risk factors based on the clinical phenotype...

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PMID: 32436647
DOI: 10.1002/ajmg.a.61625

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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