Sonographic Variety in the detection of Noonan Syndrome – case report -

Purpose: Noonan-Syndrom is an autosomal-dominant inherited chromosomal disorder which is mostly located in PTPN11-Gen, in KRAS-Gen, in SOS1-Gen and in RAF1-Gen. But most of the cases develop sporadically. The prevalence of the Noonan-Syndrome is 1:1000 – 2500 live births. The syndrome shows a wide variety of symptoms comprising heart failure, mental impairment, kryptorchism, Pterygium colli, microsomia, fazial dysmorphism as well as malformations of the lymphatic vessel system. Therapy is limited because there no curative approach. Material and methods: We present two cases of very different sonographic appearan…