0000000001098871

AUTHOR

Maura Foresti

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

2017

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 adul…

0301 basic medicineQuality of lifemedicine.medical_specialtyAblepharon-macrostomia syndrome · Barber-Say syndrome · Body satisfaction · Patient perception · Psychosocial functioning · Quality of life · Questionnaire studymedia_common.quotation_subjectBody satisfaction030105 genetics & heredityHuman physical appearanceBARBER-SAY SYNDROMEPsychosocial functioning03 medical and health sciencesAblepharon macrostomia syndromeQuality of lifePhysical functioningPerceptionMedicine and Health SciencesmedicineGeneticsAblepharon-macrostomia syndrome; Barber-Say syndrome; Body satisfaction; Patient perception; Psychosocial functioning; Quality of life; Questionnaire study; Genetics; Genetics (clinical)Ablepharon-macrostomia syndromePatient perceptionPsychiatryGenetics (clinical)media_commonbusiness.industrymedicine.diseaseBody satisfactionQuestionnaire studyBarber-Say syndromeOriginal ArticlebusinessPsychosocialFACIAL DISFIGUREMENT
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