10.6084/m9.figshare.4910588.v1
De Maria B.
De Maria B.
de Jager T.
de Jager T.
Sarubbi C.
Sarubbi
C.
Bartsch O.
Bartsch
O.
Bianchi A.
Bianchi
A.
Brancati F.
Brancati
F.
Chung H.-Y.B.
Chung
H.-Y.B.
David A.
David
A.
Kariminejad A.
Kariminejad
A.
Foresti M.
Foresti
M.
Gallottini M.
Gallottini
M.
Isidor B.
Isidor
B.
Marchegiani S.
Marchegiani
S.
Martins F.
Martins
F.
Mazzanti L.
Mazzanti
L.
Roche N.
Roche
N.
Singh A.
Singh
A.
Stevens C.
Stevens
C.
Suga K.
Suga
K.
Zenker M.
Zenker
M.
Hennekam R.C.
Hennekam
R.C.
Supplementary Material for: Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View
Karger Publishers
2017
Ablepharon-macrostomia syndrome
Barber-Say syndrome
Body satisfaction
Patient perception
Psychosocial functioning
Quality of life
Questionnaire study
2017-04-26 14:44:10
Journal contribution
https://karger.figshare.com/articles/journal_contribution/Supplementary_Material_for_Barber-Say_Syndrome_and_Ablepharon-Macrostomia_Syndrome_A_Patient_s_View/4910588
<p>Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS)
are infrequently reported congenital malformation disorders caused by
mutations in the <i>TWIST2</i> 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.</p>