We are Reporting an Infant with Genito Patellar Syndrome and KAT6B Gene Mutation Presenting with Facial Dysmorphism, Bilateral Genu Recurvatum, Hip Dislocations, Absence of Cavum Septum Pellucidum, Anal Abnormality and Hydronephrosis

Authors: Des B*, Morgan C and Devyn H

DOI: 10.23880/pnboa-16000196

Volume 9, Issue 1

Abstract

A preterm female infant was admitted to neonatal intensive care unit with respiratory distress, facial dysmorphism, bilateral genu recurvatum, hip dislocations, absence of cavum septum pellucidum, anal abnormality, and hydronephrosis. Exome study confirmed the diagnosis of Genito patellar syndrome.

Keywords: Genito Patellar Syndrome; Hydronephrosis; Recurvatum

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