Alterações na síndrome de Waardenburg e anomalias oftalmológicas associadas à fissura lábio palatina não sindrômica

Abstract

Waardenburg syndrome (WS; MIM # 193500) is a change of the resulting melanocyticpigmetário system of a disorder in differentiation, survival and migration of melanocytes derived from the neural crest in embryogenic period. Cleft lip and or palate (CL/P; MIM # 119530) represent the most common congenital anomalies of the face and its etiology is multifactorial. They present as phenotypes isolated in 70% of cases [nonsyndromic cleft lip and palate (NSCL/P)]. Hypertelorism (MIM # 145400) is a rare condition characterized by increased distance between the eye and can be present in various disorders of facial development. The objectives of this study were to evaluate the clinical characteristics in a northern family of Minas Gerais with Waardenburg syndrome with emphasis on dental and ocular manifestations, conduct a systematic review of the literature about ocular changes in NSCL/P, and evaluate the frequency of hypertelorism in NSCL/P. A complete physical examination was performed in patients and, from the collected data, a database was prepared with the information of these patients, including the images obtained in order to contribute to a better understanding of this pathology. It described the inheritance pattern and clinical features and imaginological in a family with WS type I with dental and eye changes quite significant. Of the 29 descendants of the family, 16 members had the WS, these three had dental abnormalities, characterized by dental agenesis, conoides teeth and taurodontism. Ten patients had iris depigmented and one patient had significant thinning of the retinal pigment epithelium. It was also searched mutation in gene responsible for WS type I. It was also made an analysis through a review of the literature looking for evidence of an association between ocular and NSCL/P. A literature review was conducted in accordance with the cooperation protocol Cochrane Group. In this systematic review, from 16 accessed studies, 3 were included in the final sample. All three studied ocular abnormalities in patients with NSCL/P. An article found ocular changes in 6.21% of patients. Another article found em17.54% of patients and another found ocular em 1.03% of patients. It was also made a study of the presence of hypertelorism in patients with NSCL/P of Craniofacial Anomalies Rehabilitation Center of Alfenas, Minas Gerais, Brazil and compared with normal subjects of the same age. In this study it was not observed the presence of hypertelorism in cleft patients. There was no difference in cantal rate among cleft patients and the control group. Among the three types of cleft (lip, lip and palate and palate) also there was no significant different cantal index. It is concluded that although it was not possible to establish a relationship between the significant dental changes and SW, research involving a larger number of patients may clarify this relationship with genetic and molecular basis, which was found in the medical literature the presence of significant ocular changes in patients with NSCL/P and that future studies should explore the possibility that there is a preferential occurrence of ocular abnormalities in patients with NSCL/P, including hypertelorism.