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Chronic Liver Disease
Published in Praveen S. Goday, Cassandra L. S. Walia, Pediatric Nutrition for Dietitians, 2022
Julia M. Boster, Kelly A. Klaczkiewicz, Shikha S. Sundaram
Patients with Alagille syndrome have characteristic facies which may provide a diagnostic clue (prominent forehead, deep-set eyes, and a pointed chin). These facial features may be less obvious in infants. Cholestasis leads to jaundice and scleral icterus, but children with Alagille syndrome may also have xanthomas (cholesterol deposits in the skin), which can be progressive and severe. Xanthomas on the face may be disfiguring and can impair vision if located around the eyes. Xanthomas on the extremities may impair development by limiting the use of the fingers/hands or by inhibiting walking.
Micro-Expression Recognition Using 3D-CNN Layering
Published in Fadi Al-Turjman, AI-Powered IoT for COVID-19, 2020
Prerit Rathi, Rajat Sharma, Prateek Singal, Puneet Singh Lamba, Gopal Chaudhary, Fadi Al-Turjman
Here, we try to explain the reason for our primary CNNs enhanced performance over both our late and intermediate secondary CNN versions. It's obvious that model success depends on the prominent features it grasps during training cycles [59]. We developed models presuming that both eyes and mouth provide more to the micro-expressions. Thus, we examined saliency maps to find out significant facial features. It helps to calculate the positive response towards the generation of the final class score [59]. The saliency maps are given in Figure 6.8, presented with the earliest seven frames for four unique videos at different times. It is observed that other facial features prove necessary to identify the micro-expressions apart from the eyes and mouth [60,61]. This may probably be one of the reasons behind the success that our primary CNN appears to produce better than the secondary CNN [62].
Propionic acidemia
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Infants with propionic acidemia tend to resemble each other and those with methylmalonic acidemia (Figure 2.9). Characteristic facial features are: frontal bossing; widened depressed nasal bridge, and an appearance of wide-set eyes; epicanthal folds, and a long filtrum with upward curvature of the lips. In addition, the nipples may be hypoplastic or inverted (Figure 2.10).
Classification of facial phenotypes in Asian patients with obstructive sleep apnea
Published in Acta Oto-Laryngologica, 2022
Zishanbai Zhang, Huijun Wang, Dance Sun, Nanxi Fei, Yanru Li, Demin Han
This cluster type is characterized by the longest Upper Face Height and longest Upper Airway Length. We believe that Upper Airway Length correlates with Upper Face Height. Several studies have suggested that anterior facial height is increased in patients with OSA [16]. In earlier studies, Upper Airway Length was reported to be significantly associated with AHI and shortened airway length has been reported to be associated with a decrease in OSA severity [4]. The facial features of such patients still include shorter Upper Lip Height, wider Interocular Width, and narrower Interocular Width. We believe that lower facial height is a facial indicator that may reflect the length of the airway. However, since the cause of airway length is unknown, treatment of this cluster type requires further study.
Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome
Published in Ophthalmic Genetics, 2022
Russell Simmers, Allison Goodwin, Hind Al Saif, Natario Couser
In summary, this article reports on the abnormal ocular, ocular adnexa, and facial features of NCBRS and helps to elucidate the ophthalmologic and facial presentations of NCBRS. As eye manifestations and distinctive facial features appear highly associated with the phenotype, this report highlights these entities and may benefit patients affected with the syndrome by allowing for more rapid recognition, management, and referral to appropriate services. This article may also alert providers to more carefully access NCBRS patients for potentially serious ocular abnormalities such as glaucoma that may be associated with the phenotype. Further investigations into the role of SMARCA2 on eye development could enhance our understanding of the pathophysiology of ophthalmologic manifestations of NCBRS.
Parental germline mosaic transmission of 5p13.2 microduplication in two siblings of a Chinese family
Published in Journal of Obstetrics and Gynaecology, 2022
Qi Tian, Li-Li Xu, Dong-Zhi Li
The healthy 36-year-old G3P2 woman was referred to our center for prenatal diagnosis at her first trimester of gestation. The 37-year-old non-consanguineous husband was healthy. They had a healthy 5-year-old girl. Their 3-year-old son suffered from a developmental delay. The boy was delivered at term and birth parameters were normal. He had a significant delay in psychomotor and language development. He was uncommunicative, and had a cat-like cry. Facial features included low-set and protruding ears, hypertelorism, down-slanting palpebral fissures, long phyltrum, and arched palate. He could walk independently with a wide-based gait. The karyotype was normal. However, copy-number variant (CNV) analysis using low-coverage whole-genome sequencing (CNV-seq) detected an approximate 1.56-Mb duplication on chromosome 5p13.2 in the patient, not present in parents.