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Clinical and genetic characteristics of a case of Koolen-De Vries syndrome caused by KANSL1 gene mutation and literature review: A case report.

Medicine - 6 Dec 2024

Zhang Haozheng, Yuan Limei, Fan Meili, Liu Zhaotian, Yan Yuxi, Liu Qinghua, Zhang Kaihui, Li Chunmiao, Liu Deyao

Abstract excerpt

RATIONALE: Koolen-De Vries syndrome (KdVS, OMIM: 612452), also known as 17q21.31 microdeletion syndrome, is an autosomal dominant genetic disease. In the study, we analyze of clinical phenotype and gene variation of a child with Koolen-De Vries syndrome, review the literature to improve the understanding of the disease. PATIENT CONCERNS: The patient is a male, aged 1 month and 3 days. The patient has poor airway...

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Identifiers

PMID: 39654190
DOI: 10.1097/MD.0000000000040923
PMCID: PMC11631005

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