Assessment of Facial Morphologic Features in Patients With Congenital Adrenal Hyperplasia Using Deep Learning.

Importance: Congenital adrenal hyperplasia (CAH) is the most common primary adrenal insufficiency in children, involving excess androgens secondary to disrupted steroidogenesis as early as the seventh gestational week of life. Although structural brain abnormalities are seen in CAH, little is known about facial morphology. Objective: To investigate differences in facial morphologic features between patients with CAH and control individuals with use of machine learning. Design, Setting, and Participants: This cross-sectional study was performed at a pediatric tertiary center in Southern California, from November 2017 to December 2019. Patients younger than 30 years with a biochemical diagnosis of classical CAH due to 21-hydroxylase deficiency and otherwise healthy controls were recruited from the clinic, and face images were acquired. Additional controls were selected from public face image data sets. Main Outcomes and Measures: The main outcome was prediction of CAH, as performed by machine learning (linear discriminant analysis, random forests, deep neural networks). Handcrafted features and learned representations were studied for CAH score prediction, and deformation analysis of facial landmarks and regionwise analyses were performed. A 6-fold cross-validation strategy was used to avoid overfitting and bias. Results: The study included 102 patients with CAH (62 [60.8%] female; mean [SD] age, 11.6 [7.1] years) and 59 controls (30 [50.8%] female; mean [SD] age, 9.0 [5.2] years) from the clinic and 85 controls (48 [60%] female; age, <29 years) from face databases. With use of deep neural networks, a mean (SD) AUC of 92% (3%) was found for accurately predicting CAH over 6 folds. With use of classical machine learning and handcrafted facial features, mean (SD) AUCs of 86% (5%) in linear discriminant analysis and 83% (3%) in random forests were obtained for predicting CAH over 6 folds. There was a deviation of facial features between groups using deformation fields generated from facial landmark templates. Regionwise analysis and class activation maps (deep learning of regions) revealed that the nose and upper face were most contributory (mean [SD] AUC: 69% [17%] and 71% [13%], respectively). Conclusions and Relevance: The findings suggest that facial morphologic features in patients with CAH is distinct and that deep learning can discover subtle facial features to predict CAH. Longitudinal study of facial morphology as a phenotypic biomarker may help expand understanding of adverse lifespan outcomes for patients with CAH.

Learning Pose-Aware Models for Pose-Invariant Face Recognition in the Wild.

We propose a method designed to push the frontiers of unconstrained face recognition in the wild with an emphasis on extreme out-of-plane pose variations. Existing methods either expect a single model to learn pose invariance by training on massive amounts of data or else normalize images by aligning faces to a single frontal pose. Contrary to these, our method is designed to explicitly tackle pose variations. Our proposed Pose-Aware Models (PAM) process a face image using several pose-specific, deep convolutional neural networks (CNN). 3D rendering is used to synthesize multiple face poses from input images to both train these models and to provide additional robustness to pose variations at test time. Our paper presents an extensive analysis of the IARPA Janus Benchmark A (IJB-A), evaluating the effects that landmark detection accuracy, CNN layer selection, and pose model selection all have on the performance of the recognition pipeline. It further provides comparative evaluations on IJB-A and the PIPA dataset. These tests show that our approach outperforms existing methods, even surprisingly matching the accuracy of methods that were specifically fine-tuned to the target dataset. Parts of this work previously appeared in [1] and [2].