Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less attention given to other groups. In this study, individuals from diverse populations with Noonan syndrome were evaluated clinically and by facial analysis technology. Clinical data and images from 125 individuals with NS were obtained from 20 countries with an average age of 8 years and female composition of 46%. Individuals were grouped into categories of African descent (African), Asian, Latin American and additional/other. Across these different population groups, NS was phenotypically similar with only 2 of 21 clinical elements showing a statistically significant difference. The most common clinical characteristics found in all population groups included widely spaced eyes and low-set ears in 80% or greater of participants, short stature in more than 70%, and pulmonary stenosis in roughly half of study individuals. Using facial analysis technology, we compared 161 Caucasian, African, Asian, and Latin American individuals with NS with 161 gender and age matched controls and found that sensitivity was equal to or greater than 94% for all groups, and specificity was equal to or greater than 90%. In summary, we present consistent clinical findings from global populations with NS and additionally demonstrate how facial analysis technology can support clinicians in making accurate NS diagnoses. This work will assist in earlier detection and in increasing recognition of NS throughout the world.

Army, 1918. Some comparative data have occasionally been included derived from the nine preceding annual reports.In many cases the morbidity rate is almost the same for the white and colored troops. In this paper particular attention is paid to those diseases that have a strikingly different rate in the two races. It is to be kept in mind that all troops had been subjected to the same examination at induction, in order to exclude chronic diseases; and that they lived under equally good sanitary conditions. First, may be considered the diseases that are commoner in colored than in white troops. These fall into four groups (a), those in which the excess is due to the fact that fewer of the colored men had become artificially immunized by inoculation before, or at, mobilization. They probably brought their disease to camp; or failed to get a reaction there; (b) those in which there is a lower natural immunity in the negro; (c) venereal disease and its complications, (d) other diseases.(a) Of the diseases that are due to lack of acquired immunity, smallpox is the most striking. The morbidity rate for this disease is for colored troops 9 times that for white troops (there being 146 admissions altogether). Chickenpox was relatively 8 times as common in colored as in white troops.(b) Of the diseases for which negroes lack relative natural resistance tuberculosis of the lungs and pneumonia take first places. There were over 24 times the admission rate for tuberculosis of the lungs in colored as in white troops in 1917. This is a little greater difference than the average of the past 58

No abstract

No abstract

The cover image, by Paul Kruszka et al., is based on the Original Article Noonan Syndrome in Diverse Populations, DOI: 10.1002/ajmg.a.38362. Design Credit: Darryl Leja.