How to provide a genetic counseling in a simple case of antenatal diagnosis of achondroplasia

Abstract

Achondroplasia is the most common form of inherited disproportionate short stature. Affected individuals have short arms and legs, a large head, and characteristic facial features with frontal bossing and midface retrusion, formerly known as midface hypoplasia. Mode of inheritance of achondroplasia is autosomal dominant. Two mutations in FGFR3, G380R and G375C are known to cause achondroplasia. The G380R mutation accounts for 98% of the achondroplasia cases. Here we review the ultrasound, radiographic and clinical features, genetic aspects and molecular pathogenesis of the most common form of dwarfism in humans, providing a model of genetic counseling given to a family with an antenatal diagnosis of a fetal genetic disorder, due to a novel mutation, as a part of the feto-maternal diagnostic strategy.