A new report under the spotlight: FATCO syndrome phenotype with an absent uvula and acyanotic congenital heart diseases in an Indian female newborn

Abstract

We report on a newly born female with fibular hemimelia, tibial campomelia, and lower limb oligodactyly with an acyanotic small apical muscular ventricular septal defect (VSD) and a tiny patent ductus arteriosus (PDA) with left to right shunt, as well as an absent uvula. This is the first-ever report of FATCO syndrome associated with these anomalies in an Indian female neonate. It is a rarer finding in the medical literature, to the best of authors’ knowledge. Does this rare combination suggest an emerging genetic syndrome? Given the paucity of this rare syndromic with the lack of a standardized management approach, each FATCO syndrome is reported to understand its treatment approach as well as to create awareness.