Newly recognized orbital malformations in kabuki syndrome: A case report

Area of Science:

• Genetics
• Developmental Biology
• Ophthalmology

Background:

• Kabuki syndrome (KS) is a rare genetic disorder characterized by distinctive facial features, developmental delay, and organ malformations.
• Mutations in the KMT2D gene are a common cause of Kabuki syndrome.
• Understanding the genetic basis and phenotypic spectrum of KS is crucial for diagnosis and management.

Observation:

• This report details a Kabuki syndrome patient with a novel KMT2D gene mutation (c.11785C>T, p.Gln3929*).
• The patient exhibited classic KS eyelid abnormalities: eversion of lateral lower eyelids, long palpebral fissures, hypertelorism, and medial epicanthus.
• Orbital computed tomography revealed significant orbital bone malformations, including displaced zygomatic bones, shallow orbits, and abnormal lateral wall angles.

Findings:

• The identified KMT2D mutation represents a new genetic cause for Kabuki syndrome.
• The study confirms and elaborates on the presence of orbital bone malformations in KS patients.
• Specific anomalies included zygomatic and maxillary bone dysplasia, contributing to the characteristic facial and orbital appearance.

Implications:

• This finding expands the mutational spectrum of the KMT2D gene in Kabuki syndrome.
• It reinforces the significance of detailed orbital imaging in the diagnosis and characterization of KS.
• Further research into the role of KMT2D in craniofacial development may elucidate pathogenic mechanisms and inform therapeutic strategies.