Early prenatal diagnosis of Nail-Patella syndrome by ultrasonography

Abstract

NPS is an autosomal dominant disorder. Diagnosis of NPS was initially performed using ultrasonography. Initial diagnosis revealed the presence of bilateral iliac horns on a 36 week ultrasonogram. In the case reported here, NPS was diagnosed at 18.9 weeks by ultrasonography through the presence of abnormal bilateral lower extremities and absent patella.