P303: Gastrointestinal emergencies in Cornelia de Lange syndrome: Clinical characteristics and outcomes from a single-center study

Cornelia de Lange syndrome (CdLS) constitutes a well-established congenital malformation disorder, delineated by distinctive craniofacial characteristics, both prenatal and postnatal growth deficiencies, cognitive impairments, and significant upper limb deformities. Gastrointestinal (GI) complications observed in patients with CdLS encompass hiatus hernia, pyloric stenosis, duodenal obstruction secondary to annular pancreas, and malrotation. Furthermore, various GI manifestations necessitating immediate evaluation for surgical intervention have also been documented.

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Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.102268
Primary Topic
Tumors and Oncological Cases
Type
article
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article

P303: Gastrointestinal emergencies in Cornelia de Lange syndrome: Clinical characteristics and outcomes from a single-center study

Jiyoung Oh, Hong Koh
Genetics in Medicine Open
Tumors and Oncological Cases
article

P303: Gastrointestinal emergencies in Cornelia de Lange syndrome: Clinical characteristics and outcomes from a single-center study

Jiyoung Oh, Hong Koh
article en

Abstract

Cornelia de Lange syndrome (CdLS) constitutes a well-established congenital malformation disorder, delineated by distinctive craniofacial characteristics, both prenatal and postnatal growth deficiencies, cognitive impairments, and significant upper limb deformities. Gastrointestinal (GI) complications observed in patients with CdLS encompass hiatus hernia, pyloric stenosis, duodenal obstruction secondary to annular pancreas, and malrotation. Furthermore, various GI manifestations necessitating immediate evaluation for surgical intervention have also been documented.

Genetics in Medicine OpenVol. 3
Yonsei University (KR), Severance Hospital (KR), Gangnam Severance Hospital (KR)
Openalex Percentile: Top 93%
Tumors and Oncological Cases
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P303: Gastrointestinal emergencies in Cornelia de Lange syndrome: Clinical characteristics and outcomes from a single-center study — Jiyoung Oh, Hong Koh · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS