Alvarez Camila Wenceslau, Guion-Almeida Maria Leine, Richieri-Costa Antonio
Clinical Genetics Department of the Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, (HRCA-USP), Bauru, SP, Brazil.
Clinical Genetics Department of the Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, (HRCA-USP), Bauru, SP, Brazil.
J Craniomaxillofac Surg. 2014 Dec;42(8):1952-7. doi: 10.1016/j.jcms.2014.08.007. Epub 2014 Sep 7.
Oral clefts include cleft lip (CL), cleft lip with cleft palate (CLP) and cleft palate (CP), with wide variations in clinical presentation and degree of severity. We described a sample of individuals with CL and CP without alveolar arch involvement (CL + CP) to verify if the characteristics of this group are distinct from those with CL with or without CP (CL/P) described in literature. The sample was composed of 356 patients with CL + CP, registered at HRCA-USP, Bauru-SP-Brazil. The following characteristics were investigated: sex ratio, parental age at the time of conception, parental consanguinity, familial recurrence, laterality of the cleft and associated anomalies. A subgroup of 30 individuals with microforms of CL and CP were taken from the sample and compared with the remaining cases. Statistical differences were found between this CL + CP sample and the literature data for groups with CL/P regarding laterality, sex ratio, consanguinity, familial recurrence, and the presence of associated anomalies. The microform sample showed a statistical difference in paternal age. In most evaluated aspects, this sample presents similar characteristics to the consulted literature data for CL/P; as do the group of microform cleft cases when compared with the remaining CL + CP sample in this study. Microforms of cleft can represent a target group for investigation into the embryogenetic mechanisms of oral clefts and their phenotypic variability.
口腔裂隙包括唇裂(CL)、唇腭裂(CLP)和腭裂(CP),临床表现和严重程度差异很大。我们描述了一组无牙槽弓受累的唇裂和腭裂患者样本(CL + CP),以验证该组患者的特征是否与文献中描述的伴有或不伴有腭裂的唇裂患者(CL/P)不同。该样本由356例CL + CP患者组成,他们在巴西圣保罗州鲍鲁市的圣保罗大学牙科学院人类遗传学研究中心登记。研究了以下特征:性别比例、受孕时父母年龄、父母近亲结婚情况、家族复发情况、裂隙的侧别以及相关畸形。从样本中选取了30例患有微小唇裂和腭裂的个体亚组,并与其余病例进行比较。在CL + CP样本与文献中CL/P组的数据之间,在侧别、性别比例、近亲结婚情况、家族复发情况以及相关畸形的存在方面发现了统计学差异。微小唇裂样本在父亲年龄方面显示出统计学差异。在大多数评估方面,该样本呈现出与文献中CL/P组相似的特征;本研究中微小唇裂病例组与其余CL + CP样本相比也是如此。微小唇裂可能是研究口腔裂隙胚胎发生机制及其表型变异性的目标群体。