Prenatal diagnosis of Binder phenotype (naso-maxillar hypoplasia)

Abstract

Facial dysmorphism is a common diagnosis which represents a broad spectrum of aetiologies with different outcomes spreading from normal result to foetal demise or new-borns with multiple malformations. Prenatal diagnosis can be difficult, making counselling a challenging task even in experienced hands. This paper aims to present an unusual case of facial dysmorphism (Binder phenotype) which resulted in a healthy pregnancy. However, throughout the pregnancy, future parents experienced excruciating anxiety, which required multiple prenatal counselling appointments. We believe that in case of a Binder phenotype, genetic testing, multiple scanning appointments, and extensive discussion with future parents are vital in the prevention of an unneeded ending of a pregnancy.