Many congenital diseases are associated with growth failure, and patients with these diseases have specific growth patterns. As the growth patterns of affected individuals differ from those of normal populations, it is challenging to detect additional conditions that can influence growth using standard growth charts. Disease-specific growth charts are thus very useful tools and can be helpful f...

The neuro-cardio-facial-cutaneous syndrome (NCFCS) concept was recently established in order to group a number of hereditary disorders characterized by a variable degree of growth and mental retardation, cardiac defects, dysmorphic facial features and skin abnormalities, and having a common background, germline mutations in genes of the RAS-MAPKinase pathway. The included entities are Noonan an...

A case of juvenile myelomonocytic leukemia (JMML, previously referred to as JCML) in a neonate with Noonan syndrome (NS) is described. The boy presented with bilateral congenital hydrothoraces, nonimmune hydrops, dysmorphic facies, persistent thrombocytopenia, and leukocytosis. The diagnosis of JMML was made on bone marrow cell culture studies. Review of the literature reveals an unusual prepon...

Clinical details are presented on 151 individuals with Noonan syndrome (83 males and 68 females, mean age 12.6 years). Polyhydramnios complicated 33% of affected pregnancies. The commonest cardiac lesions were pulmonary stenosis (62%), and hypertrophic cardiomyopathy (20%), with a normal echocardiogram present in only 12.5% of all cases. Significant feeding difficulties during infancy were pres...

Juvenility was previously defined as a distinct clinical life history stage, characterized by adrenarche, decelerating growth and accelerating adiposity. This review presents the theory of evolutionary predictive adaptive strategies for premature juvenility in response to (mostly) energy supply, but also to other environmental cues. In the absence of longitudinal adrenal androgen levels, premat...