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Article
| IMSEAR
| ID: sea-198231
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.