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.

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