Objective studies of the face of Noonan, Cardio‐facio‐cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway

In this study, subjective observations, in the main, were validated by anthropometry with one exception. In individuals with Costello syndrome, mouth width was normal, thus the impression of wide mouth is likely due to full lips or the mouth being viewed in relation to a narrow lower face. When the three conditions were compared objectively, syndrome‐specific pattern profiles showed high concordance in early life. At older ages, Cardio‐facio‐cutaneous syndrome was distinguished by increased width of the mid/lower face, and reduced growth of maxillary and mandibular dimensions was noted in both Noonan and Costello syndromes. Despite substantial similarities in face shape in older individuals with these two conditions, bulbous nasal tip, full lips, and an apparently wide mouth in those with Costello Syndrome facilitate discrimination from Noonan syndrome. © 2016 Wiley Periodicals, Inc.
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: Original Article Source Type: research