Aarskog syndrome: from prenatal features towards postnataldiagnosis

Abstract

Aarskog syndrome (faciogenital dysplasia, facio-digito-genital syndrome, Aarskog-Scott syndrome, OMIM 305400) is a rare, clinically and genetically heterogeneous X-linked recessive condition characterized by facial dysmorphic features, short stature, brachydactyly and genital anomalies. The prenatal diagnosis of Aarskog syndrome has only been made in the third trimester in high-risk families. This case describes a pregnancy with facial dysmorphism from 12 weeks gestation and associated growth restriction from the second trimester, postnatally diagnosed as the Aarskog syndrome. It shows the value of three-dimensional ultrasound in the evaluation of facial dysmorphism.