Newly recognized orbital malformations in kabuki syndrome: A case report

Eur J Ophthalmol. 2024 Apr 24:11206721241249224. doi: 10.1177/11206721241249224. Online ahead of print.ABSTRACTKabuki 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 malformation with temporally and inferiorly displaced zygomatic bone. The bilateral orbits were shallow with an enlarged angle between the lateral walls. Zygomatic and maxillary bone dysplasia were also observed. Orbital bone anomalies are thought to be one of the characteristics of KS.PMID:38656196 | DOI:10.1177/11206721241249224
Source: European Journal of Ophthalmology - Category: Opthalmology Authors: Source Type: research