학술논문
Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases.
Document Type
Academic Journal
Author
Bergamini LL; Faculty of Medicine, Federal University of Alagoas (UFAL), Maceió, Alagoas, Brazil.; Spineli-Silva S; Department of Translational Medicine, Medical Genetics and Genomic Medicine, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, São Paulo, Brazil.; Félix TM; Medical Genetics Service, Clinical Hospital of Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil.; Gil-da-Silva-Lopes VL; Department of Translational Medicine, Medical Genetics and Genomic Medicine, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, São Paulo, Brazil.; Vieira TP; Department of Translational Medicine, Medical Genetics and Genomic Medicine, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, São Paulo, Brazil.; Ribeiro EM; Medical Genetics Service, Children's Hospital Albert Sabin (HIAS), Fortaleza, Ceará, Brazil.; Xavier AC; Center for Research and Rehabilitation of Lip and Palate Lesions, Prefeito Luiz Gomes Center, Joinville, Santa Catarina, Brazil.; Lustosa-Mendes E; Assistance Center for Cleft Lip and Palate - CAIF-AFISSUR, Curitiba, Paraná, Brazil.; Fontes MÍB; Clinical Genetics Service, University Hospital, Federal University of Alagoas (UFAL), Maceió, Alagoas, Brazil.; Monlleó IL; Faculty of Medicine, Federal University of Alagoas (UFAL), Maceió, Alagoas, Brazil.; Clinical Genetics Service, University Hospital, Federal University of Alagoas (UFAL), Maceió, Alagoas, Brazil.
Source
Publisher: Wiley on behalf of the Japanese Teratology Society Country of Publication: Australia NLM ID: 9306292 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1741-4520 (Electronic) Linking ISSN: 09143505 NLM ISO Abbreviation: Congenit Anom (Kyoto) Subsets: MEDLINE
Subject
Language
English
Abstract
This study aims to discuss diagnostic criteria and severity assessment for craniofacial microsomia (CFM). A series of 61 patients with diverse CFM phenotypes had their clinical data collected by experienced dysmorphologists using a single protocol. Genetic abnormalities were searched through karyotype and chromosomal microarray analysis. Sex ratio, prenatal risk factors, and recurrence rate corroborated the literature. Despite the wide variability of clinical findings, ear disruption was universal. Eight patients were assigned as syndromic, four of whom had demonstrable genetic alterations. The majority of patients (67.2%) fulfilled four known diagnostic criteria, while 9.8% fulfilled one of them. Data strengthened disruptions of the ear and deafness as a semiotically valuable sign in CFM. Facial impairment should consider asymmetry as a mild expression of microsomia. Spinal and cardiac anomalies, microcephaly, and developmental delay were prevalent among extra craniofacial features and should be screened before planning treatment and follow up. The severity index was able to recognize the less and the most affected patients. However, it was not useful to support therapeutic decisions and prognosis in the clinical scenario due to syndromic and non-syndromic phenotypes overlapping. These issues make contemporary the debate on diagnostic methods and disease severity assessment for CFM. They also impact care and etiopathogenetic studies.
(© 2021 Japanese Teratology Society.)
(© 2021 Japanese Teratology Society.)