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Updated: May 24, 2026

Multimodality Diagnosis of Mesenteric Ischemia

Multimodality Diagnosis of Mesenteric Ischemia

Published on: July 21, 2023

[Kabuki syndrome].

J L Suarez Guerrero¹, A A Ordónez Suarez, G A Contreras García

¹Grupo de Investigación en Genética Clínica, Facultad de Salud, Universidad Industrial de Santander, Bucaramanga, Santander, Colombia. jorgesuarezg@gmail.com

Anales De Pediatria (Barcelona, Spain : 2003)

|March 6, 2012

Summary

This summary is machine-generated.

Kabuki syndrome, a genetic disorder, is characterized by distinctive facial features and developmental delays. Early clinical diagnosis is crucial for managing symptoms and providing genetic counseling.

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Area of Science:

Genetics
Pediatrics
Clinical Medicine

Background:

Kabuki syndrome (OMIM: #147 920) is a rare genetic disorder.
Characterized by distinctive facial features, developmental delays, and multisystem abnormalities.
Recent research links Kabuki syndrome to mutations in the MLL2 gene.

Observation:

Presents two pediatric cases with clinical manifestations consistent with Kabuki syndrome.
Key features include large palpebral fissures, everted lower eyelids, depressed nasal bridge, arched eyebrows, and flat nose.
Associated anomalies included persistent fingertip pads, cardiopathies, and renal abnormalities.

Findings:

The clinical diagnosis of Kabuki syndrome relies on characteristic physical and developmental features.
The presented cases align with previously reported clinical descriptions in the literature.
Genetic basis is heterogeneous, with MLL2 gene mutations being a significant factor.

Implications:

Emphasizes the importance of early clinical diagnosis for timely intervention.
Facilitates appropriate genetic counseling for affected families.
Highlights the need for comprehensive management addressing multisystem involvement in Kabuki syndrome.