Psychosocial changes in patients submitted to orthodontic surgery treatment: a systematic review and meta-analysis.

OBJECTIVE: This systematic review aims to answer the following question: What is the psychological impact of orthognathic surgery on patients with dentofacial deformities undergoing orthodontic-surgical treatment? MATERIAL AND METHODS: The search was adapted for each of the following databases: American and Caribbean Center on Health Sciences (LILACS), Cochrane Library, Embase, Psychinfo, PubMed/Medline, Scopus and Web of Science, and gray literature using Google Scholar, OpenGrey, and ProQuest. The risk of bias was assessed using the Joanna Briggs Institute Critical Assessment Checklist. This study performed estimates of interest, random-effects meta-analyses, and calculated heterogeneity using Higgins inconsistency index (I2). RESULTS: A total of 6751 references were found in all searches. After applying the eligibility criteria after full-text reading, 37 studies comprised the final qualitative synthesis. Thirteen studies were included in quantitative synthesis, and it was possible to meta-analyze data from the following questionnaires: GHQ-28, MMPI, RSES, and SCL-90-R. There was an improvement in psychological aspects related to depression, hysteria, self-esteem, anxiety, obsessive-compulsiveness, interpersonal sensitivity, paranoid ideas, and psychoticism (p < 0.05). CONCLUSIONS: Correction of dentofacial deformity through orthodontic-surgical treatment is associated with improvements observed in several psychological domains, especially in relation to depressive states. CLINICAL RELEVANCE: This result highlights the importance of surgeons and orthodontists in promoting adequate control of patients' expectations and treatment goals taking into account the individual's psychological aspects.

FACE-Q Craniofacial Module: Part 1 validation of CLEFT-Q scales for use in children and young adults with facial conditions.

BACKGROUND: The CLEFT-Q includes 12 independently functioning scales that measure appearance (face, nose, nostrils, teeth, lips, jaws), health-related quality of life (psychological, social, school, speech distress), and speech function, and an eating/drinking checklist. Previous qualitative research revealed that the CLEFT-Q has content validity in noncleft craniofacial conditions. This study aimed to examine the psychometric performance of the CLEFT-Q in an international sample of patients with a broad range of facial conditions. METHODS: Data were collected between October 2016 and December 2019 from 2132 patients aged 8 to 29 years with noncleft facial conditions. Rasch measurement theory (RMT) analysis was used to examine Differential Item Function (DIF) by comparing the original CLEFT-Q sample and the new FACE-Q craniofacial sample. Reliability and validity of the scales in a combined cleft and craniofacial sample (n=4743) were examined. RESULTS: DIF was found for 23 CLEFT-Q items when the datasets for the two samples were compared. When items with DIF were split by sample, correlations between the original and split person locations showed that DIF had negligible impact on scale scoring (correlations ≥0.995). In the combined sample, RMT analysis led to the retention of original content for ten CLEFT-Q scales, modification of the Teeth scale, and the addition of an Eating/Drinking scale. Data obtained fit with the Rasch model for 11 scales (exception School, p=0.04). Person Separation Index and Cronbach alpha values met the criteria. CONCLUSION: The scales described in this study can be used to measure outcomes in children and young adults with cleft and noncleft craniofacial conditions.

The need to belong: Subjective experiences of living with craniofacial conditions and undergoing appearance-altering surgery.

The purpose of this study was to better understand how individuals with craniofacial conditions experience living with visible differences and make sense of appearance-altering surgery. We conducted semi-structured qualitative interviews with 11 adults with Goldenhar or Crouzon syndrome. Interviews were analysed using a hermeneutic-phenomenological approach to thematic analysis. Our analysis revealed the following overarching theme, To see myself as other people see me, which encompassed three main themes: a) Striving to fit in, b) Altering the way I look and c) Support from family and friends. The participants' sense of their own appearance seemed to be connected to how they perceived others to evaluate their appearance. All had experienced negative reactions from others. They experienced themselves as different and had a desire to belong. All participants had undergone appearance-altering surgery, hoping that by changing appearance, they would reduce negative reactions and feel more connected to and accepted by other people. The process of undergoing appearance-changing surgery was experienced as challenging, and participants wished for a dialogue with surgeons which included psychological and emotional aspects of changing appearance. A better understanding of how to strengthen positive identity processes and feelings of belongingness should be a key focus of future research.

FACE-Q craniofacial module: Part 2 Psychometric properties of newly developed scales for children and young adults with facial conditions.

BACKGROUND: The FACE-Q Craniofacial Module is a patient-reported outcome measure designed for patients aged 8 to 29 years with conditions associated with a facial difference. In part 1, we describe the psychometric findings for the original CLEFT-Q scales tested in patients with cleft and noncleft facial conditions. The aim of this study was to examine psychometric performance of new FACE-Q Craniofacial Module scales. METHODS: Data were collected between December 2016 and December 2019 from patients aged 8 to 29 years with conditions associated with a visible or functional facial difference. Rasch measurement theory (RMT) analysis was used to examine psychometric properties of each scale. Scores were transformed from 0 (worst) to 100 (best) for tests of construct validity. RESULTS: 1495 participants were recruited with a broad range of conditions (e.g., birthmarks, facial paralysis, craniosynostosis, craniofacial microsomia, etc.) RMT analysis resulted in the refinement of 7 appearance scales (Birthmark, Cheeks, Chin, Eyes, Forehead, Head Shape, Smile), two function scales (Breathing, Facial), and an Appearance Distress scale. Person separation index and Cronbach alpha values met criteria. Three checklists were also formed (Eye Function, and Eye and Face Adverse Effects). Significantly lower scores on eight of nine scales were reported by participants whose appearance or functional difference was rated as a major rather than minor or no difference. Higher appearance distress correlated with lower appearance scale scores. CONCLUSION: The FACE-Q Craniofacial Module scales can be used to collect and compare patient reported outcomes data in children and young adults with a facial condition.

Barriers to Accessing Medical Care for Hispanic Individuals With Craniofacial Conditions.

In the United States, having limited access to health care has been an ongoing concern that could cause detrimental effects for minority populations, specifically the Hispanic population. Numerous barriers to accessing health care were identified for both pediatric and adult Hispanic patients who were born with craniofacial conditions. Barriers that were determined to impact Hispanic patients with craniofacial conditions from receiving medical and health services included language and communication, patient-health care provider relationships, socioeconomic status and finances, insurance status, timely access to appointments, citizenship and immigration status, and lack of family and social support. Interventions for these barriers were also proposed to increase support for Hispanic patients. Lamentably, there is scant research that investigates how these barriers affect this special population, despite the limitations that they have in their ability to access health care. In addition, these barriers to treatment have dire consequences for individuals with craniofacial conditions. The findings and proposed interventions discussed in this review article provide measures to minimize these barriers and define ways to benefit Hispanic patients with craniofacial conditions.

Lujan-Fryns Syndrome Phenotype with Autism-Like Behavior and Atypical Psychotic Symptoms: Case Report. / Otizm Benzeri Davranis ve Atipik Psikotik Belirtileri Olan Lujan-Fryns Sendromu Fenotipi: Olgu Sunumu.

Lujan-Fryns Syndrome (LFS) is defined as a set of symptoms including mild-moderate mental retardation, marfanoid appearance, hypotonia at birth, hypernasal speech, characteristic craniofacial appearance and normal testis size. The frequency of the syndrome is not known thus the information obtained is solely based on case reports. Hereby, we present a patient with LFS diagnosis. The 29-year old male patient had mental retardation, aggression, and persecutory delusions, characteristic craniofacial and marfanoid features. During his speech pronominal reversal was observed ('the hurt him, he is so upset' when talking abour himself). After examination and genetic analysis, fragile X, Klinefelter, Marfan and Down syndromes and homocystinuria were eliminated as causes of mental retardation. A preliminary diagnoses of LFS done. No mutation was detected in exon 22 of the MED12 gene; but. Whole Exome Sequencing (WES) is ongoing. The patient was started on risperidone (4 mg/day) for psychotic symptoms and carbamazepine (200 mg/day) for impulse control and as an antiepileptic. After a follow up of 8 months, impulse control, psychotic symptoms and aggression improved significantly. Since the specific gene mutation of LFS was not determined in our case, we solely had to depend on clinical evaluation and genetic analysis. Although it is not easy to fully define or classify these syndromes, we believe every reported case will be a step in overcoming these difficulties.

Sex differences in perceived stigmatization, body image disturbance, and satisfaction with facial appearance and speech among adolescents with craniofacial conditions.

Youth with craniofacial conditions often have appearance and speech differences and are vulnerable to social stigmatization and body image disturbances. Given sociocultural pressures for female attractiveness, adolescent girls with craniofacial conditions may be especially vulnerable to body dissatisfaction and appearance-related social stigmatization, though such sex differences have been infrequently studied in this population. This study aimed to: (1) examine sex differences in body image disturbance, satisfaction with speech and facial appearance, and perceived stigmatization among adolescents with craniofacial conditions; and (2) evaluate whether stigmatization perceptions are predictive of body image disturbance and satisfaction with facial appearance and speech. Using a cross-sectional design, 110 adolescents from two craniofacial centers completed measures of body image disturbance, satisfaction with speech and facial appearance, and perceived stigmatization. Females reported significantly greater levels of body image disturbance and lower satisfaction with facial appearance compared to males. There were no significant sex differences for satisfaction with speech or perceived stigmatization. Perceived stigmatization was a significant predictor of body image disturbance, and satisfaction with facial appearance and speech while controlling for sex, body mass index, and age. Interventions to prevent and/or address body image and stigmatization concerns are clinically indicated for both sexes.

Effect of Parental English Proficiency on Psychosocial Functioning in Children with Craniofacial Anomalies.

BACKGROUND: Psychosocial distress in children with craniofacial anomalies is multifactorial. A known cause of childhood psychosocial distress is parental limited English proficiency; however, its role as a psychosocial stressor in the craniofacial anomaly population remains unknown. The current study aimed to understand the potential influence of parental English proficiency in children with craniofacial anomalies. METHODS: Two hundred ninety-six children were prospectively evaluated at the University of California, Los Angels and the Orthopaedic Institute for Children using the Pediatric Patient-Reported Outcomes Measurement Information System to assess anger, anxiety, depression, and peer relationships. Children were grouped by parental English proficiency based on the requirement or lack thereof for interpreting services during clinic appointments. Independent t tests, analyses of variance, and linear regressions were performed to compare groups and identify predictors for psychosocial functioning. RESULTS: Although comparison children did not exhibit any differences in psychosocial scores with respect to parental English proficiency, craniofacial anomaly children with parents who have limited English proficiency demonstrated higher anger, anxiety, depression, and lower peer relationships compared with those with parents who are English proficient. Linear regression analyses demonstrated that limited English proficiency in parents was a significant predictor for anger (p = 0.005), anxiety (p = 0.002), depression (p < 0.001), and poor peer relationships (p < 0.001) in children with craniofacial anomalies. CONCLUSIONS: Parental English proficiency is associated with increased psychosocial distress in children with craniofacial anomalies. Future efforts toward identification of and assistance for parents with limited English proficiency to address barriers to care may improve psychosocial function in children with craniofacial anomalies. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.

Discrepancies in Parent Perceptions and Patient-Reported Psychosocial Function in Children with Craniofacial Anomalies.

BACKGROUND: Understanding and optimizing psychosocial functioning in children with craniofacial anomalies are essential components of their reconstructive care. This work compared parental perceptions to pediatric self-reported psychosocial functioning in children with craniofacial anomalies. METHODS: Two hundred twenty-one children with craniofacial anomalies (aged 8 to 17 years) and their parents were prospectively evaluated at two institutions using the parent-proxy and pediatric Patient-Reported Outcomes Measurement Information System to assess anger, anxiety, depression, and peer relationships. Children were stratified into three age groups: group A, 8 to 10 years; group B, 11 to 13 years; and group C, 14 to 17 years. Pearson correlations, analyses of variance with post hoc comparisons under the Tukey criterion, and paired samples t tests were performed. RESULTS: When stratified by age, no correlations between parent and child reports were found in anxiety for group A and anger, anxiety, and peer relationships for group C. Whereas group A reported the worst psychosocial functioning, group C parents perceived their children to have the worst psychosocial functioning. Group A parents perceived lower depression and better peer relationships, whereas group C parents perceived higher anxiety and depression compared to self-reports. CONCLUSIONS: Parents perceived an inverse relationship between age and psychosocial functioning compared to self-reports by children with craniofacial anomalies. These discrepancies in the current work highlight the importance of child self-report and suggest incorporating longitudinal patient-reported and parent-proxy-reported outcomes measures for psychosocial functioning as part of standard clinical care for patients with craniofacial anomalies.

NF1 microdeletion syndrome: case report of two new patients.

BACKGROUND: 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and its flanking regions are associated with a more severe NF1 phenotype than the NF1 general population. CASE PRESENTATION: We hereby describe the clinical and molecular features of two girls (aged 2 and 4 years, respectively), with non-mosaic atypical deletions. Patient 1 showed fifteen café-au-lait spots and axillary freckling, as well as a Lisch nodule in the left eye, strabismus, high-arched palate, malocclusion, severe kyphoscoliosis, bilateral calcaneovalgus foot, mild generalized hypotonia, hyperactivity and deficits of speech-related abilities. NF1 genomic rearrangements through multiplex ligation-dependent probe amplification (MLPA) detected an heterozygous deletion of the whole NF1 gene. Array comparative genomic hybridization (a-CGH) analysis defined a 17q11.2 deletion of about 1 Mb (breakpoints at positions 29,124,299 and 30,151,654), which involved different genes (partially CRLF3, ATAD5, TEFM, ADAP2, RNF135, OMG, EVI2B, EVI2A, RAB11FIP4), including NF1. Patient 2 showed growth and developmental delay, supravalvular pulmonary stenosis, twenty-five café-au-lait spots, axillary freckling, craniofacial dysmorphic features, short neck with pterygium, limb abnormalities and foci of neural dysplasia on brain magnetic resonance imaging (MRI). MLPA detected an heterozygous deletion of NF1, which was detailed by a-CGH indicating the positions 29,124,299 and 30,326,958 as its breakpoints, and which included aside from the genes deleted in Patient 1 also COPRS, UTP6 and partially SUZ12. Fluorescent in situ hybridization (FISH) analysis of the parents documented a de novo origin of the deletions in both cases. CONCLUSIONS: The present report will likely provide further insights and a better characterization of NF1 microdeletion syndrome.

What to Do When People Stare: A Workshop to Teach Individuals With Disfiguring Conditions to Contend With Staring and Improve Control of Social Interactions.

Facial disfigurement due to any congenital or acquired condition is a social disability that can impede communication, contribute to awkward social interactions, and cause individuals with differences to be isolated and rejected. Yet, few interventions have been developed to address the psychosocial consequences of living with a visible difference, despite research indicating that the more visible the disfigurement is to others, the greater the social implication and challenge for the affected individual. This article reviews the impact of the "What to Do When People Stare" social and communication workshop, including its theoretical basis (drawn from anthropological research and theory pertaining to disfigurement), the phenomenon of staring, and the experience of being the target of a stare. The review highlights feedback from 46 individuals with disfiguring conditions caused by burns, dermatological conditions, and craniofacial conditions who completed a Workshop Evaluation Survey. The instructor, who has a facial difference, reviewed the science of staring, the role and influence of the media and beauty in society, myths associated with disfigurement, social and communication skills, and asked specific questions to elicit feelings and beliefs about why people stare, and how it feels to be the object of a stare. After completing the workshop, 80% of participants reported that they felt better prepared to cope with staring, and 83% reported a better understanding about the motives of staring. The workshop demonstrates the need to increase awareness of visible differences and to teach individuals with visible differences and the general public appropriate social skills for engaging with one another. The workshop's success to date highlights the need for similar programs addressing the psychosocial communicative dimensions related to staring. Collaborations with burn centers and other nonprofit organizations that treat and assist individuals with psychosocial issues related to visible difference could strengthen content and assessment data.

Epidemiology, prevention, diagnosis, treatment, and outcomes for psychosocial problems in patients and families affected by non-intellectually impairing craniofacial malformation conditions: a systematic review protocol of qualitative data.

BACKGROUND: Physical attractiveness or unattractiveness wields a tremendous impact on the social and psychological components of life. Many individuals with facial deformities are treated more negatively than normal individuals, which may affect their self-image, quality of life, self-esteem, interpersonal encounters, and ultimately, success in life. Malformations that do not create physiological problems and whose major health impact is to degrade physical attractiveness and engender psychosocial consequences are insufficiently understood and not considered functional problems by medical insurance companies. METHODS/DESIGN: As part of a clinical practice guideline development process for psychosocial concerns in Freeman-Burian syndrome, manuscripts describing psychosocial considerations related to the presence of non-intellectually impairing craniofacial malformation conditions or associated clinical activities are sought, especially focusing on epidemiology, prevention, symptoms, diagnoses, severity, timing, treatment, consequences, and outcomes. All published papers on this topic are considered in searching PubMed, OVID MEDLINE, and CINAHL Complete and again before final analyses. The results will be written descriptively to be practically useful and structured around the type or timing of psychosocial problems or consequences described or target population characteristics. No meta-analysis is planned. DISCUSSION: Because the quality of research on psychosocial problems in craniofacial malformation conditions is known to be fraught with methodological problems, inconsistencies, and considerable knowledge gaps, we anticipate difficulties, which may limit the review questions able to be answered. We hope to produce a survey relevant to all non-intellectually impaired craniofacially deformed patients and their families and outline knowledge gaps and prioritise areas for clinical investigation. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42018093021: UNIVERSAL TRIAL NUMBER: U1111-1211-8153.

Factors associated with negative observer responses towards individuals with visible differences: A scoping review.

People with visible differences are often confronted with negative observer responses, including stares, disgust, and avoidance. Characteristics of negative observer responses are well-documented, but less is known about associated factors. We conducted a scoping review to map what is known about factors associated with negative observer responses. Web of Science, PubMed, PsycINFO, and CINAHL databases were searched, and 16 articles met inclusion criteria. Two general categories of factors were identified: (1) observer characteristics, including age, sex, and socioeconomic status, experiences with disfigurements, and personal beliefs or attitudes related to visible differences; and (2) evolved internal mechanisms, including threat-detection, disgust, and disease avoidance. Additionally, there was evidence that lack of anonymity influences lower reporting of observer reactions. Efforts that increase exposure to individuals with visible differences may ameliorate adverse reactions; however, due to the limited nature of evidence reviewed, further research is needed before more concrete recommendations can be made.

Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome.

Kleefstra syndrome, a disease with intellectual disability, autism spectrum disorders and other developmental defects is caused in humans by haploinsufficiency of EHMT1. Although EHMT1 and its paralog EHMT2 were shown to be histone methyltransferases responsible for deposition of the di-methylated H3K9 (H3K9me2), the exact nature of epigenetic dysfunctions in Kleefstra syndrome remains unknown. Here, we found that the epigenome of Ehmt1+/- adult mouse brain displays a marked increase of H3K9me2/3 which correlates with impaired expression of protocadherins, master regulators of neuronal diversity. Increased H3K9me3 was present already at birth, indicating that aberrant methylation patterns are established during embryogenesis. Interestingly, we found that Ehmt2+/- mice do not present neither the marked increase of H3K9me2/3 nor the cognitive deficits found in Ehmt1+/- mice, indicating an evolutionary diversification of functions. Our finding of increased H3K9me3 in Ehmt1+/- mice is the first one supporting the notion that EHMT1 can quench the deposition of tri-methylation by other Histone methyltransferases, ultimately leading to impaired neurocognitive functioning. Our insights into the epigenetic pathophysiology of Kleefstra syndrome may offer guidance for future developments of therapeutic strategies for this disease.

Factors affecting subjective appearance evaluations among patients with congenital craniofacial conditions: An application of Cash's cognitive-behavioural model of body image development.

Satisfaction with appearance is of central importance for psychological well-being and health. For individuals with an unusual appearance, such as congenital craniofacial anomalies (CFA), appearance evaluations could be especially important. However, few, if any papers have presented a comprehensive synthesis of the factors found to affect subjective satisfaction with appearance among children, adolescents, and adults born with a CFA. Further, only a handful of craniofacial studies have applied psychological theories or models to their findings, resulting in an overall lack of guidance for researchers in the field. This paper summarises the literature pertaining to satisfaction with appearance among those affected by CFAs, and examines the extent to which Cash's cognitive-behavioural model of body image development (2012) fits with this literature. Given the overlap between factors of interest in the field of CFAs, and in the area of body image more broadly, a closer collaboration between the two research fields is suggested.

Identifying Psychosocial Risk Factors Among Families of Children With Craniofacial Conditions: Validation of the Psychosocial Assessment Tool-Craniofacial Version.

OBJECTIVE: To evaluate the psychometric properties of the Psychosocial Assessment Tool-Craniofacial Version (PAT-CV), a screening instrument for psychosocial risk in families of children with craniofacial conditions, and to examine risk classification of patients in a craniofacial population. DESIGN: Prospective, cross-sectional, single-center study. SETTING: Interdisciplinary cleft lip and palate/craniofacial center at a US children's hospital. PARTICIPANTS: Parents/caregivers (n = 242) of 217 children ages 1 month to 17 years being treated for a congenital syndromic or nonsyndromic craniofacial condition completed the PAT-CV and validating measures from July 2015 to July 2016. The PAT-CV was completed by 121 caregivers a second time to assess test-retest reliability. MAIN OUTCOME MEASURES: PAT-CV, Child Behavior Checklist, Adult Self-Report, Pediatric Quality of Life Inventory, Craniofacial Experiences Questionnaire, and Family Environment Scale. RESULTS: Construct validity of the PAT-CV was supported by significant correlations ( P < .001) between PAT-CV total and subscale scores and the validated measures. PAT-CV total scores categorized 59.9% of families within the universal risk group, 32.3% within the targeted risk group, and 7.8% within the clinical range. Good criterion validity was indicated by significantly higher scores ( P < .0001) obtained on the validated measures for those in the targeted and clinical risk groups. Internal consistency (Cronbach's α = 0.86) and test-retest reliability for the PAT-CV total score ( r = 0.77, P < .0001) were acceptable. CONCLUSIONS: The PAT-CV appears to be a reliable and valid screening instrument for psychosocial risk. Accurate identification of risk and implementation of appropriate interventions may contribute to improvements in medical and psychosocial outcomes.

Age-Related Differences in Psychosocial Function of Children with Craniofacial Anomalies.

BACKGROUND: Age is a frequent consideration for surgical timing in pediatric craniofacial surgery for optimal psychosocial development. However, systematic evaluations of the effects of age in children under active treatment have not been thoroughly evaluated. METHODS: Ninety-nine patients (age, 8 to 17 years; 46.5 percent male) from the University of California, Los Angeles, Craniofacial Clinic were prospectively evaluated using the Pediatric Patient-Reported Outcomes Measurement Information System to assess anger, anxiety, depression, and quality of peer relationships. Patients were stratified into three age groups by years: group A, 8 to 10 years, n = 30; group B, 11 to 13 years, n = 41; and group C, 14 to 17 years, n = 28. Analyses of variance and logistic regression analyses were performed. RESULTS: Significant differences in anxiety (F2,96 = 5.1; p = 0.008), depression (F2,96 = 9.7; p < 0.001), peer relationships (F2,96 = 3.5; p = 0.03), and anger (F2,96 = 4.9; p = 0.009) were found among the age groups. Group A demonstrated the highest anxiety, highest depression, and lowest peer relationship scores overall. Although there were no differences in anger between groups A and C, group B had the lowest anger scores. Children with poor scores of higher severity, defined as greater than 1 SD worse than the national mean, were compared. Group A contributed the highest percentages of more severely affected children in all categories. A logistic regression analysis demonstrated that group A was a statistically significant predictor for scores of higher severity in both anxiety (OR, 3.8; 95 percent CI, 1.3 to 11.5; p = 0.02) and peer relationships (OR, 3.4; 95 percent CI, 1.3 to 9.3; p = 0.02). CONCLUSIONS: Children between 8 and 10 years of age with craniofacial anomalies constitute a high-risk subset for psychosocial dysfunction. The authors' work suggests that tight surveillance with family and school awareness may be necessary for this age group. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.

Enfrentando la vida con una malformación congénita craneofacial / Facing life with a craniofacial congenital malformation

Las malformaciones congénitas craneofaciales pueden llegar a tener importantes repercusiones en quienes nacen con estas, sin embargo, son pocos los estudios destinados a indagar sobre el impacto de este tipo de malformaciones en los individuos. Desde esta perspectiva se plantea como objetivo de estudio conocer cómo y de qué manera es el impacto de vivir con una malformación congénita craneofacial. Para alcanzar este objetivo se hizo uso del relato biográfico, para lo cual se siguió la metodología de Amezcua y Hueso y de Hoyos. El análisis de los datos obtenidos permitió establecer unas categorías como son: el desconocimiento del personal de salud sobre la malformación y sobre el síndrome, la forma en la que la sociedad estigmatiza y genera obstáculos, la reacción de los padres frente al recibimiento de un hijo con malformación y, finalmente, la visión de su experiencia como significativa. El participante en su relato demuestra cómo a pesar de los retos que impone el entorno y la sociedad a personas con malformaciones congénitas, los recursos internos permiten transformar la experiencia y resignificarla

Craniofacial congenital malformations may have important effects on those individuals who are born with them; however, there is a short range of studies aimed to query their impact. The objective defined for this study is to know how and in what extension is the impact of living with a craniofacial congenital malformation. In order to reach this objective it was carried out a biographical account following methodology of Amezcua y Hueso and Hoyos. Data analysis allowed the identification of categories such as: lack of information by health professionals about syndrome and malformation, the way society stigmatizes and creates obstacles, parents’ reaction towards birth of a child with malformation and understanding of experience as a significant one. In his account the participant shows how internal sources allow for experience transformation and new signification despite imposed challenges by context and society