Prenatal Sonographic Features of Noonan Syndrome: Case Series and Literature Review.

ABSTRACT: Noonan syndro me is a rare autosomal dominant congenital abnormality associated with a gene defect located on the short arm of chromosome 12. It is characterized by dysmorphic facies, webbed neck, short stature, lymphatic obstruction, cardiac anomalies, and intellectual disability. Prenatal diagnosis of Noonan syndrome is rare because there are no pathognomonic sonographic signs. Studies on the prenatal sonographic features of Noonan syndrome have been reported in very limited numbers. This case series of severe fetal Noonan syndrome, together with a literature review, was conducted to establish prenatal sonographic features highly suggestive of Noonan syndrome to facilitate early detection by clinicians. This study reveals that Noonan syndrome has a relatively specific pattern, which faci

SUBMITTER: Tangshewinsirikul C 

PROVIDER: S-EPMC11476750 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature