Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View

Molecular syndromology

Beatrice De Maria¹ 

关键词: Ablepharon-macrostomia syndrome;    Barber-Say syndrome;    Body satisfaction;    Patient perception;    Psychosocial functioning;    Quality of life;    Questionnaire study;   

DOI  :  10.1159/000472408

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the TWIST2 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.

【 授权许可】

CC BY