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Article

A case of Kabuki syndrome with congenital pulmonary airway malformation.

Journal of investigative medicine : the official publication of the American Federation for Clinical Research - 1 Oct 2026

Yang Lan, Chen Qinghui, Zhou Weifang, Deng Jianping, Tian Jianmei

Abstract excerpt

This study reports one case of Kabuki syndrome (KS) accompanied by a new mutation in the KMT2D gene and concurrent congenital pulmonary airway malformation (CPAM). After birth, the child demonstrated delayed physical growth and neurological, psychological, and intellectual development. Notable facial features included arched eyebrows and elongated eyelids toward the lower side. Chest computed tomography revealed...

Read the complete abstract on PubMed

Topics

Humans
Vestibular Diseases
Abnormalities, Multiple
Hematologic Diseases
Face
DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Neoplasm Proteins

Male

Lung

Mutation

Female

Base Sequence

Source

Identifiers

PMID: 41700612
DOI: 10.1177/10815589261425966

Genes

KMT2D

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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