Fig. 1: Phenotypic characteristics of males and females with X-linked, MSL3-associated disorder.
From: Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
(a) Facial gestalt of individuals with causative variants in MSL3 showing dysmorphic features with broad nasal bridge, ear abnormalities (low set and/or posteriorly rotated ears, preauricular tags, overfolded helices), and coarse facial features in older individuals being the most common characteristics. (b) Using Face2Gene, a composite image based on the frontal facial images of previously published and newly diagnosed cases with MSL3-associated disorder was created. The mask of the healthy controls was generated by an age-, sex-, and ethnicity-matched control group. The composite image of individuals with MSL3 variants visualizes dysmorphic and distinguishing facial features (round face, coarse facial features, broad nasal bridge, puffy eyes, hypertelorism, downslanting palpebral fissures, downturned corners of the mouth). The aggregated binary comparison (AUC area under the curve, ROC receiver operating characteristic) demonstrates a significant difference between the two cohorts (p < 0.005). (c) Back-to-back chart visualizes the frequency (in percent) of respective clinical features present in females (gray bars, n = 10) and males (blue bars, n = 15). The distribution of no feature was significantly different between the respective subgroups (Fisher’s exact test).
