Related Experiment Video
Updated: Apr 18, 2026
12:13
Assessing Primary Motor Cortex Excitability and Excitability Modulation by Pairing Transcranial Magnetic Stimulation with Electromyography
Published on: October 7, 2025
906
Kabuki Make-up Syndrome - A Case Report with Electromyographic study
Atul Sattur1, Pallavi K Deshmukh2, Lijoy Abrahim3
1Professor, Department of Oral Medicine and Radiology, SDM College of Dental Sciences and Hospital , Dharwar, Karnataka, India .
Journal of Clinical and Diagnostic Research : JCDR
|January 14, 2015
Summary
Kabuki make-up syndrome (KMS) is a rare congenital disorder. This case report highlights the diagnostic and therapeutic importance of electromyographic studies in managing KMS patients.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Kabuki make-up syndrome (KMS), also known as Niikawa-Kuroki syndrome, is a rare congenital disorder of unknown cause.
- Initially described in Japan, KMS affects diverse ethnic groups and is characterized by distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, and short stature.
Purpose of the Study:
- To report a case of Kabuki syndrome in a 24-year-old Asian female.
- To emphasize the significance of electromyographic (EMG) studies in the diagnosis and treatment of KMS, an area with limited existing literature.
Main Methods:
- Clinical diagnosis of Kabuki syndrome based on characteristic features.
- Review of existing literature regarding KMS diagnosis and treatment.
Main Results:
- The patient presented with typical clinical manifestations of Kabuki syndrome.
- The report underscores the potential role of electromyographic studies in evaluating and managing KMS, despite a lack of prior literature on this specific aspect.
Conclusions:
- Kabuki syndrome is a complex congenital disorder with a wide range of clinical features.
- Electromyographic studies may offer valuable insights into the diagnosis and treatment strategies for Kabuki syndrome, warranting further investigation.
