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Master's Dissertation
Full name
Isabella de Oliveira Lima Parizotto Paula
Knowledge Area
Date of Defense
Bauru, 2022
Tonello, Cristiano (President)
Nakata, Nancy Mizue Kokitsu
Schellini, Silvana Artioli
Tognon, Taíse
Title in English
Clinical characterization of anophthalmic and microphthalmic cavities in individuals with craniofacial anomalies
Keywords in English
Craniofacial abnormalities
Abstract in English
Objective: Measure the frequency of anophthalmic and microphthalmic patients with craniofacial anomalies (FCAs). Design Descriptive, cross-sectional, retrospective study.Setting Hospital for Rehabilitation in Craniofacial Anomalies of the University of São Paulo (HRAC-USP, Bauru, São Paulo, Brazil). Patients The medical records of patients treated at HRAC from 2000 to 2012 with a diagnosis of anophthalmia or congenital microphthalmia were examined. Patients were excluded for secondary anophthalmia, incomplete medical records, or information that could not be accessed. Outcome Measures Frequency of anophthalmia and microphthalmia; the proportions and diagnoses of associated FCAs; impairment of ocular appendages; extracranial or facial anomalies; genetic alterations; and surgical approach. Results A total of 56 patients had anophthalmia (52.3%), 35 had microphthalmia (32.7%), and 16 patients had both (15%). Individuals with FCAs associated with microphthalmia, anophthalmia, or both totaled 74, corresponding to 69.2%. Anophthalmia was more likely than microphthalmia to be accompanied by FCAs, at 76.4% of patients (p < 0.05). Cleft lip and palate were the main malformations associated with anophthalmia (23.64%), with microphthalmia (45%), and with both (44.44%). Reconstructive surgery was done in 63.6% of cases. The ocular attachments were compromised in 71% of cases. Extracraniofacial malformations were found in 9.3% of patients. Only seven records contained karyotypes, and no changes directly related to anophthalmia or microphthalmia were found. Conclusion Anophthalmia is more frequent than microphthalmia and is more often accompanied by FCA. Cleft lip and cleft palate are the most frequent concomitant malformations.
Title in Portuguese
Caracterização clínica de cavidades anoftálmicas e microftaálmicas em indivíduos com anomalias craniofaciais
Keywords in Portuguese
Anomalias craniofacias
Abstract in Portuguese
Objetivo: Frequência de pacientes anoftálmicos e microftálmicos com as anomalias craniofaciais (ACF). Desenho Estudo descritivo, transversal e retrospectivo. Local: Hospital de Reabilitação em Anomalias Craniofaciais da Universidade de São Paulo (HRAC-USP). Bauru, São Paulo, Brasil. Pacientes: Prontuários de pacientes atendidos no HRAC no intervalo do ano de 2000 a 2012 com diagnóstico de anoftalmia ou microftalmia congênita. Excluiu-se anoftalmia secundária, prontuários incompletos ou cujas informações não possam ser acessadas. Desfechos estudados: Frequência de anoftalmia e microftalmia, proporção e diagnóstico de ACF associadas. Comprometimento de anexos oculares, anomalias extracranianas ou faciais, alterações genéticas e abordagem cirúrgica. Resultados: Total de 56 pacientes com anoftalmia (52,3%), 35 com microftalmia (32,7%) e 16 que apresentavam ambos (15%). Indivíduos com ACF associadas a microftalmia, anoftalmia ou ambos somaram 74, correspondendo a 69,2%. Em anoftalmia foi encontrado maior tendência a associar-se com ACF com 76,4% (p<0.05). Fissura labiopalatina foi a principal malformação associada à anoftalmia 23,64%, microftalmia 45% e ambos 44,44% em todas as situações. A cirurgia reparadora ocorreu em 63,6% dos casos. Os anexos oculares foram comprometidos em 71% dos casos. Em 9,3% dos pacientes encontrou-se malformações extra craniofaciais. Apenas 7 prontuários contavam análise de cariótipo e nenhuma alteração diretamente relacionada com a anoftalmia ou microftalmia foi encontrada. Conclusão: Conclui-se que a anoftalmia é mais frequente e que mais se associa a ACF. As fissuras labiopalatinas são as malformações concomitantes mais frequentes.
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