RESUMO
OBJECTIVE: First and second branchial arch involvement during early embryonic development results in a wide spectrum of anomalies that encompass diverse, superimposed, and heterogeneous phenotypes within the so-called oculoauriculovertebral spectrum. Nine members of a Brazilian family presenting typical branchial arch involvement in association with external opthalmoplegia are reported. CONCLUSION: Macrostomia or abnormal mouth contour, preauricular tags, and uni- or bilateral ptosis were present in association in several patients. To our knowledge, this is the first report on this type of autosomal dominant condition. Clinical and genetic aspects are discussed.
Assuntos
Região Branquial/anormalidades , Síndrome de Goldenhar/complicações , Macrostomia/etiologia , Oftalmoplegia/etiologia , Blefaroptose/etiologia , Brasil , Orelha Externa/anormalidades , Feminino , Genes Dominantes , Síndrome de Goldenhar/patologia , Humanos , Recém-Nascido , Linhagem , SíndromeRESUMO
OBJECTIVE: To examine the prevalence of dental anomalies in the deciduous and permanent teeth, ectopic eruption of permanent first molars, and associated oral malformations in individuals with Treacher Collins syndrome. STUDY DESIGN: Clinical and radiographic examination of 15 patients with Treacher Collins syndrome, from the Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo, not submitted to orthodontic or orthognathic treatment. RESULTS: Dental anomalies were present in 60% of the sample, with 1-8 anomalies per individual. Hypoplastic dental anomalies were the most common, followed by heterotopic and hyperplastic dental alterations. The most frequent anomalies were tooth agenesis (33.3%), mainly affecting the mandibular second premolars, and enamel opacities (20% of patients). Ectopic eruption of the maxillary first molars was found in 13.3% of subjects. Associated oral malformations, primarily isolated cleft palate, followed by complete cleft lip and palate and macrostomia, were observed in 66.7% of patients. CONCLUSIONS: Presence of cleft palate associated with the syndrome is in agreement with the literature. The high prevalence of dental anomalies suggests a possible etiologic relationship, not described in the literature so far, between such alterations and the Treacher Collins syndrome. Further investigations on larger samples are required to confirm these results.
Assuntos
Disostose Mandibulofacial/complicações , Anormalidades Dentárias/etiologia , Erupção Ectópica de Dente/etiologia , Adolescente , Anodontia/etiologia , Criança , Pré-Escolar , Fenda Labial/etiologia , Fissura Palatina/etiologia , Hipoplasia do Esmalte Dentário/etiologia , Humanos , Macrostomia/etiologia , Dente Molar/patologiaRESUMO
A case of bilateral macrostomia type transverse facial cleft of Tessier n. 4 is reported, which was operated on with good results when had ten months of age, repaired using suture of three planes of three embryonic folds. A treatment plain precocious is recommended and pathogenic theories about this uncommon entity are exposed.