A Genotyped Case of Townes–Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey

Abstract Townes–Brocks syndrome (TBS) is a rare characterized by triad of anal, ear, and thumb anomalies. Further malformations/anomalies include congenital heart diseases, foot malformations, sensorineural and/or conductive hearing impairment, genitourinary anomalies eye nervous system. Definitive diagnosis for TBS confirmed molecular analysis mutations in the SALL1 gene. Only one known case with absent pulmonary valve (APVS) has been previously described to our knowledge. Here, we report newborn diagnosed APVS tetralogy Fallot (TOF) who was found carry most common pathogenic gene mutation c.826C > T (p.R276X), its surgical repair postoperative follow-up. To knowledge, this first genotyped from Turkey date. should be suspected presence malformations neonate. If patient TOF-APVS needs preoperative ventilation within months life, implies prolonged intubation increased risk mortality.