Noonan’s syndrome

Autosomal dominant disorder most often caused by mutations involving the PTPN11 gene and less frequently NF1 or KRAS genes.

Characterized by nuchal hygromas and hydrops.

Ultrasound reveals hypertelorism, pulmonary stenosis or hypertrophic cardiomyopathy.

Leave a Reply

Your email address will not be published. Required fields are marked *