A Suspected Case of Patau Syndrome in an Eight-week-old Male Infant: A Case Report and Review of Literature

Abstract

Patau syndrome is the third most common autosomal trisomy. It is the least common and most severe of the viable autosomal trisomies. This chromosomal disorder has a characteristic phenotype consisting of multiple congenital anomalies. We report an eight-week-old male infant who is the first child of a non-consanguineous marriage born at term with multiple congenital anomalies. He had an absent left eye and a sunken right eye, a cleft lip, a cleft palate, a mid-facial hypoplasia and a flat occiput. A cranial CT scan showed gross dilatation of both lateral and third ventricles with the absence of the septum pellucidum and fused frontal lobes. There was also marked attenuation of the cortical mantle.