Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea

Genitopatellar syndrome (GPS) is a rare disorder characterized by patellar hypoplasia, flexion contractures of the lower limbs, psychomotor retardation and genital and renal anomalies. We report the case of a female infant diagnosed with GPS to a KAT6B gene mutation, which was identified using whole exome sequencing.

A Case of Genitopatellar Syndrome / 대한주산의학회잡지

We report a female with genitopatellar syndrome, a recently identified arthrogryposis syndrome. Genitopatellar syndrome is a suggested autosomal recessive disorder, which is characterized by absent patellae, genital and renal anomalies, dysmorphic features, bilateral hypoplasia of the ischia and corpus callosum dysgenesis, mental retardation, micrognathia and swallowing difficulty. External genital anomaly consists of scrotal hyperplasia, clitoris hypertrophy or small clitoris. Possible renal anomalies are multicystic kidneys or hydronephrosis. Dysmorphic features include a coarse face and a broad nose with a high nasal bridge. In our case, the patient has an absent patellae, hydronephrosis, clitoris hypertrophy, dysmorphic features, club foot, corpus callosum dysgenesis, micrognathia and swallowing difficulty.