Neurofibromatosis-Noonan syndrome (NFNS) is a distinct entity which shows the features of both NF1 (neurofibromatosis 1) and Noonan syndrome (NS). While growth hormone deficiency (GHD) has been relatively frequently identified in NF1 and NS patients, there is limited experience in NFNS cases. The literature includes only one case report of a NFNS patient having GHD and that report primarily foc...

Background: Recombinant human growth hormone (rhGH) is being used to promote linear growth in short children with Noonan syndrome. However, its efficacy is still controversial. Aims: To systematically determine the impact of rhGH therapy on adult height in children with Noonan syndrome. Methods: We searched the Cochrane Central Register of Controlled Trials, ISI Web of Science, MEDLINE, and the...

Noonan syndrome is a genetic disorder associated with short stature. We reviewed 15 studies in which growth hormone (GH) therapy was used in children with Noonan syndrome. Data show consistent increases in mean height standard deviation score (SDS), with first-year changes of up to 1.26 SDS. Among studies reporting adult or near-adult height, GH therapy over 5–7 years resulted in adult height S...

Noonan syndrome (NS) is a common, predominantly inherited condition characterized by distinctive facial features, short stature, chest deformity, heart disease, and often other disease manifestations. Approximately 61% of NS cases can be explained by changes in the genetic make-up, the reason behind the remaining 39% is mostly unknown. Thus, NS frequently remains a clinical diagnosis. Because o...

Lymphatic vessels are thought to arise from PROX1-positive endothelial cells (ECs) in the cardinal vein in response to induction of SOX18 expression; however, the molecular event responsible for increased SOX18 expression has not been established. We generated mice with endothelial-specific, inducible expression of an RAF1 gene with a gain-of-function mutation (RAF1(S259A)) that is associated w...

The ductus venosus serves as an important vascular pathway for intrauterine circulation. This case presents a description of an absent ductus venosus in a female patient with Noonan syndrome, including both prenatal and postnatal imaging of the anomaly. In the setting of the anomalous vascular connection, the umbilical vein courses inferiorly to the iliac vein in parallel configuration with the...