Aarskog–Scott syndrome – prenatal ultrasound diagnosis in a case with positive family history

• Main Authors: Nawal Hubaishi, Fatima Cherifi, Maryam Khalid Taka, Amina Bin Ashoor, Dario Paladini
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2017-01-01
• Series: Hamdan Medical Journal
• Online Access: http://www.hamdanjournal.org/article.asp?issn=2227-2437;year=2017;volume=10;issue=3;spage=187;epage=190;aulast=Hubaishi;type=0

Aarskog–Scott syndrome (AAS), which is also known as faciogenital dysplasia, is a rare developmental disorder inherited mainly as an X-linked recessive trait. Broad hands with brachydactyly, facial clefts, a small nose and an increased upper-to-lower-segment ratio represent the features amenable to prenatal diagnosis. We report an ultrasound diagnosis at 13 gestational weeks in a family with a history of the disease. Genetic testing in the neonate confirmed the familial mutation in the FGD1 gene, which has not been described so far in AAS (c.53del–p.Pro18Argfs*106). This report demonstrates that couples with a history of AAS can be reassured that the fetus is likely to be disease free if the first trimester ultrasound shows no features of the syndrome.