生殖器系と性的障害: 現在の研究
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概要

Noonan Syndrome, A Rare Clinical Entity: Case Report

Neer Dhillon*, Aleksandr Fuks

Noonan syndrome (NS) is a rate autosomal dominant developmental disorder, occurring in approximately 1 in 1,000-2,500 live births. A prenatal diagnosis of NS is difficult to establish due to high variability of sonographic findings and differential diagnoses. If considered as a differential diagnosis, it allows for appropriate preparation for delivery and treatment of the neonate. We present a case of a 37 year-old female with sonographic findings in the antepartum period suspicious for multiple diseases including Noonan syndrome. Due to its rarity, Noonan Syndrome was not considered a differential diagnosis until delivery based on clinical features and confirmed with genetic testing.