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

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.

Quality of Life and Psychological Adjustment of Women Living with 46,XY Differences of Sex Development.

Background: Progressive care improvement for differences of sex development (DSD), regarding diagnosis communication, psychological, medical and surgical management has been claimed.

Aim Of The Study: To assess clinical management, quality of life (QoL) and the general psychosocial adjustment of individuals with 46,XY DSD. Some differences related to age at diagnosis are investigated.