An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome.

[kabuki syndrome]

Kabuki syndrome is a rare genetic disorder characterized by intellectual disability and multiple congenital anomalies , including short stature , peculiar facial appearance , skeletal anomalies , a variety of visceral malformations and abnormal dermatoglyphic patterns . We describe a case of Kabuki syndrome presenting with atypical features , consisting of bilateral microphthalmia , coloboma , anal atresia and panhypopituitarism , showing considerable phenotypic overlap with CHARGE syndrome . This report demonstrates that clinical follow-up and molecular genetic testing can be useful for establishing the correct diagnosis .

Diseases
Validation

Diseases presenting "molecular genetic testing" symptom

achondroplasia

adrenomyeloneuropathy

dentinogenesis imperfecta

kabuki syndrome

pendred syndrome

von hippel-lindau disease

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