General approach to velocardiofacial anomalies: a pediatric case presenting with Fallot tetralogy

Abstract

Velocardiofacial syndrome (VCFS), also known as “Shprintzen syndrome” or “22q11.2 deletion syndrome” is an autosomal dominant genetic disorder with a wide range of phenotypical findings. It is majorly characterized by cleft palate, dysmorphic face, conotruncal cardiac anomalies, growth retardation, neurologic disorders and learning disabilities. Our case was the first child of her family and she had a cleft palate, dysmorphic face, tetralogy of Fallot (TOF), growth retardation and a mild neuromotor developmental delay. It is important to recognize this syndrome and inform the family about the probable future health problems of their babies as early as possible. Genetic counselling is crucial for the subsequent pregnancies. Therefore, we wanted to review the literature about the differential diagnosis and genetics of velocardiofacial anomalies.