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Year : 2017  |  Volume : 10  |  Issue : 3  |  Page : 187-190

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

1 Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Dubai Hospital, Dubai, United Arab Emirates
2 Fetal Medicine and Surgery Unit, Istituto Giannina Gaslini, Genoa, Italy

Correspondence Address:
Nawal Hubaishi
Fetal Medicine Unit, Department Obstetrics and Gynaecology, Dubai Hospital, Dubai
United Arab Emirates
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Source of Support: None, Conflict of Interest: None

DOI: 10.7707/hmj.678

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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.

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