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IJAR.2018.192

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Type of Article:  Case Report

Volume 6; Issue 2.3 (June 2018)

Page No.: 5306-5309

DOI: https://dx.doi.org/10.16965/ijar.2018.192

PRIMARY AMENORRHEA IN KABUKI SYNDROME: A CASE REPORT

Nandha Kumar Subbiah 1, Sarah Ramamurthy *2, Aravindhan Karuppusamy 3.

1 Assistant Professor of Anatomical Sciences, Medical University of the Americas, St. Kitts and Nevis.

*2 Assistant Professor, Department of Anatomy, Pondicherry Institute of Medical Sciences, Kalapet, Pondicherry, India.

3 Additional Professor and Head, Department of Anatomy, JIPMER, Pondicherry, India.

Corresponding Author: Dr Sarah Ramamurthy, Assistant Professor, Department of Anatomy, Pondicherry Institute of Medical Sciences, Kalapet, Pondicherry, India. Phone:9962267590 E-Mail: drsarahsenthilkumar@gmail.com

ABSTRACT:

Kabuki syndrome also called as Niikawa Kuroki syndrome is a paediatric congenital disorder characterised by distinctive facial features, skeletal anomalies, short stature, dermatoglyphic abnormalities and mental retardation. This syndrome usually manifests with precocious puberty. We are presenting a case of Kabuki syndrome from the South-Indian population with primary amenorrhea for the first time. Further, the clinical features had considerable overlap with Turner syndrome, and chromosomal analysis revealed the presence of ring (X) chromosome with 45,X karyotype.

Key words: Kabuki syndrome, Comet assay, Turner syndrome, Ring chromosome.

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Cite this article: Nandha Kumar Subbiah, Sarah Ramamurthy, Aravindhan Karuppusamy. PRIMARY AMENORRHEA IN KABUKI SYNDROME: A CASE REPORT. Int J Anat Res 2018;6(2.3):5306-5309. DOI: 10.16965/ijar.2018.192