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Barber-Say syndrome and ablepharon-macrostomia syndrome : a patient's view

(2017) MOLECULAR SYNDROMOLOGY. 8(4). p.172-178
Author
Organization
Abstract
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.
Keywords
FACIAL DISFIGUREMENT, Ablepharon-macrostomia syndrome, Barber-Say syndrome, Body satisfaction, Patient perception, Psychosocial functioning, Quality of life, Questionnaire study

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Citation

Please use this url to cite or link to this publication:

Chicago
De Maria, Beatrice, Tresia de Jager, Caitlin Sarubbi, Oliver Bartsch, Alberto Bianchi, Francesco Brancati, Hon-Yin B Chung, et al. 2017. “Barber-Say Syndrome and Ablepharon-macrostomia Syndrome : a Patient’s View.” Molecular Syndromology 8 (4): 172–178.
APA
De Maria, B., de Jager, T., Sarubbi, C., Bartsch, O., Bianchi, A., Brancati, F., Chung, H.-Y. B., et al. (2017). Barber-Say syndrome and ablepharon-macrostomia syndrome : a patient’s view. MOLECULAR SYNDROMOLOGY, 8(4), 172–178.
Vancouver
1.
De Maria B, de Jager T, Sarubbi C, Bartsch O, Bianchi A, Brancati F, et al. Barber-Say syndrome and ablepharon-macrostomia syndrome : a patient’s view. MOLECULAR SYNDROMOLOGY. 2017;8(4):172–8.
MLA
De Maria, Beatrice et al. “Barber-Say Syndrome and Ablepharon-macrostomia Syndrome : a Patient’s View.” MOLECULAR SYNDROMOLOGY 8.4 (2017): 172–178. Print.
@article{8553102,
  abstract     = {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.},
  author       = {De Maria, Beatrice and de Jager, Tresia and Sarubbi, Caitlin and Bartsch, Oliver and Bianchi, Alberto and Brancati, Francesco and Chung, Hon-Yin B and David, Albert and Kariminejad, Ariana and Foresti, Maura and Gallottini, Marina and Isidor, Bertrand and Marchegiani, Shannon and Martins, Fabiana and Mazzanti, Laura and Roche, Nathalie and Singh, Ankur and Stevens, Cathy and Suga, Kenichi and Zenker, Martin and Hennekam, Raoul C},
  issn         = {1661-8769},
  journal      = {MOLECULAR SYNDROMOLOGY},
  keywords     = {FACIAL DISFIGUREMENT,Ablepharon-macrostomia syndrome,Barber-Say syndrome,Body satisfaction,Patient perception,Psychosocial functioning,Quality of life,Questionnaire study},
  language     = {eng},
  number       = {4},
  pages        = {172--178},
  title        = {Barber-Say syndrome and ablepharon-macrostomia syndrome : a patient's view},
  url          = {http://dx.doi.org/10.1159/000472408},
  volume       = {8},
  year         = {2017},
}

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