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Article

Newly recognized orbital malformations in kabuki syndrome: A case report.

European journal of ophthalmology - 1 Sept 2024

Wu Pengsen, Xiong Cheng, Rao Jing, Ouyang Ming, Zhang Hua, Wu Yuqing, Liu Guiqin

Abstract excerpt

Kabuki syndrome (KS) is a rare congenital disorder with distinctive characteristics. Herein, we describe a KS patient carrying a novel mutation in the KMT2D gene, c.11785C > T (p.Gln3929*). The patient presented with typical eyelid deformities, including eversion of the lateral lower eyelids, long palpebral fissures, hypertelorism, and medial epicanthus. Orbital computed tomography revealed orbital bone...

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PMID: 38656196
DOI: 10.1177/11206721241249224

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