Primary Amenorrhea In Kabuki Syndrome: A Case Report

ABSTRACT

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