The face of Glut1‐DS patients

Abstract

Glut1 deficiency syndrome (Glut1-DS) is a neurological and metabolic disorder caused by impaired transport of glucose across the blood brain barrier (BBB). Mutations on the SCL2A1 gene encoding the glucose transporter protein in the BBB cause the syndrome, which encompasses epilepsy, movement disorders, and mental delay. Such variability of symptoms presents an obstacle to early diagnosis. The patients seem to share some craniofacial features, and identification and quantification of these could help in prompt diagnosis and clinical management. We performed a three-dimensional morphometric analysis of the faces of 11 female Glut1-DS patients using a stereophotogrammetric system. Data were analyzed using both inter-landmark distances and Principal Component Analysis. Compared with data collected from age-, sex-, and ethnicity-matched control subjects, common and homogenous facial features were identified among patients, which were mainly located in the mandible and the eyes. Glut1-DS patients had a more anterior chin; their mandibular body was longer but the rami were shorter, with a reduced gonial angle; they had smaller and down-slanted eyes with a reduced intercanthal distance. This study highlights the importance of morphometric analysis for defining the facial anatomical characteristics of the syndrome better, potentially helping clinicians to diagnose Glut1-DS. Improved knowledge of the facial anatomy of these patients can provide insights into their facial and cerebral embryological development, perhaps further clarifying the molecular basis of the syndrome. Clin. Anat. 30:644-652, 2017. © 2017 Wiley Periodicals, Inc.

Three-Dimensional Stereophotogrammetric Analysis of Adults Affected by Dravet Syndrome

“…In order to recognize facial traits common among the patients, which could represent "soft markers" of the disease and could be helpful for the diagnosis in unrecognised adult patients, in this preliminary study a 3D stereophotogrammetric evaluation of the facial soft tissues of six DS patients was performed. An anthropometric approach for the assessment of the facial morphology of syndromic patients is, indeed, advisable: many syndromes are characterised by a more or less evident facial morphology that can guide the clinicians towards the diagnosis, both in children and in adults [23,24,26]. Moreover in presence of a certain pathology, facial morphology can be affected in a not apparently appreciable way and becomes manifest thanks to a 3D facial anthropometric assessment [28].…”

“…The aim of this preliminary study is to facilitate the recognition of the syndrome also in adult patients, identifying morphological common facial features among them. Different human syndromes such as Down's and Marfan and also epileptic ones, like Glut-1 deficiency, are characterised by typical facial features, whose recognition can improve the detection of the disease, both in young and adult subjects [21][22][23][24][25][26]. Currently, facial features can be easily investigated through an anthropometric approach by means of user-friendly and not invasive optical instruments such as stereophotogrammetry and laser scanners [27,28].…”

Three-Dimensional Soft-Tissue Facial Morphometry in Caucasian Obese Adults

“…Indeed, quantitative soft-tissue facial data in the three dimensions can currently be obtained by digital, computerized anthropometry [10][11][12][13][14][15][16][17][18][19][20][21]. Current technology allows fast and non-invasive optical scans of facial surface, providing a global assessment of patients.…”

Third-Based Facial Similarities and Differences of Monozygotic Twins: A Stereophotogrammetric 3D Assessment

“…Nevertheless, the advancement of the technologies in the last years has enhanced the number of 3D studies in this field [4][5][6][7]. Among the 3D acquisition systems, optical instruments such as laser scanners and stereophotogrammetry have permitted to reproduce 3D facial morphology safely and rapidly, in order to perform reliable morphometric analyses of the face [8,9]. Their valuable advantage is the non invasiveness, which allows to perform multiple facial acquisitions in healthy subjects that have no medical reasons to undergo other invasive or fastidious 3D imaging procedures [10].…”