Patau Syndrome Mimicking Edwards Syndrome – A Case Report

Patau syndrome (Trisomy 13) is a rare chromosomal anomaly incidence being 1 in 12000-20,000 live births, caused by the presence of an extra copy of chromosome 13, with advanced maternal age being a common attributable risk factor. It is characterized by multiple congenital anomalies involving the central nervous system, cardiovascular, musculoskeletal, and genitourinary systems, and is associated with high neonatal morbidity and mortality. We report the case of a 1 month 15 days old female infant who presented with progressive respiratory distress, making weaning from oxygen support difficult. On physical examination, the infant exhibited multiple dysmorphic features, including microcephaly, microphthalmia, low-set ears, postaxial polydactyly, hypertonia, rocker-bottom foot, overlapping fingers, clenched hand and umbilical hernia. Further evaluation revealed significant cardiac anomalies on two-dimensional echocardiography, including a 6mm atrial septal defect (ASD),8mm ventricular septal defect (VSD), and 4mm patent ductus arteriosus (PDA), complicated by severe pulmonary hypertension. Chest radiograph showed a normal cardiothoracic ratio, while ultrasonography of abdomen and pelvis revealed a left renal cortical cyst, indicating associated genitourinary involvement. Owing to the presence of overlapping fingers and Rocker bottom foot, an initial clinical suspicion of Edwards’s syndrome was made. Karyotyping was subsequently performed. Cytogenetic analysis confirmed the diagnosis of Patau syndrome (Trisomy 13). The child then shifted to the intensive care unit, received ventilatory support, pulmonary vasodilators, and decongestive therapy (intravenous furosemide), along with comprehensive supportive care. Despite intensive supportive care the infant’s condition deteriorated and she eventually succumbed. This case highlights sometimes Patau Syndrome can mimic Edwards Syndrome. It also emphasizes the importance of early recognition of trisomy syndromes, the role of antenatal screening and diagnosis by chorionic villous sampling biopsy and amniocentesis by karyotyping, and the need for genetic counseling to guide management and parental decision-making.