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.
Authors
- Jiyoung Oh (ORCID: https://orcid.org/0000-0003-3552-8465)
- Hong Koh (ORCID: https://orcid.org/0000-0002-3660-7483)
Institutions
- Yonsei University (KR)
- Severance Hospital (KR)
- Gangnam Severance Hospital (KR)
Publication Details
- 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
- Field-Weighted Citation Impact
- 0.00