Newly recognized orbital malformations in kabuki syndrome: A case report.
Eur J Ophthalmol
; 34(5): NP49-NP52, 2024 Sep.
Article
em En
| MEDLINE
| ID: mdl-38656196
ABSTRACT
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 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.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Órbita
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Anormalidades Múltiplas
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Tomografia Computadorizada por Raios X
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Doenças Vestibulares
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Face
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Doenças Hematológicas
Limite:
Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article