De Maria Beatrice, de Jager Tresia, Sarubbi Caitlin, Bartsch Oliver, Bianchi Alberto, Brancati Francesco, Chung Hon-Yin B, David Albert, Kariminejad Ariana, Foresti Maura, Gallottini Marina, Isidor Bertrand, Marchegiani Shannon, Martins Fabiana, Mazzanti Laura, Roche Nathalie, Singh Ankur, Stevens Cathy, Suga Kenichi, Zenker Martin, Hennekam Raoul C
Department of Pediatrics and Translational Genetics, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, The Netherlands.
Department of Pediatrics, S. Orsola-Malpighi Hospital, University of Bologna, Bologna.
Mol Syndromol. 2017 Jun;8(4):172-178. doi: 10.1159/000472408. Epub 2017 Apr 27.
Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with. We tabulated frequently asked questions from affected individuals and families, and a parent of an affected child and an affected adult woman offered personal testimonies. We focused on perception of illness, body satisfaction, and the consequences for an otherwise normal individual who has a disorder that interferes with body image. The importance of paying particular attention to the management of both the physical appearance and the consequences of these entities on the quality of life is stressed by the affected individuals themselves.
巴伯-赛义德综合征（BSS）和无睑裂-大口畸形综合征（AMS）是由该基因的突变引起的先天性畸形疾病，报道较少。两者均以外胚层衍生结构异常为特征，在认知和身体功能正常的个体中导致主要面部的非常不寻常的形态。我们从受影响个体及其家庭的角度出发，研究了BSS和AMS的存在对其心理社会功能的影响。我们将受影响个体和家庭经常提出的问题制成表格，一位受影响儿童的家长和一位受影响的成年女性提供了个人证词。我们关注疾病认知、身体满意度，以及对于一个身体形象受干扰的正常个体所产生的后果。受影响个体自身强调了特别关注这些疾病的外貌管理及其对生活质量影响的重要性。
