title: Clinical and genetic study on 356 Brazilian patients with a distinct phenotype of cleft lip and palate without alveolar ridge involvement.
abstract: 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.
authors.affiliation: Clinical Genetics Department of the Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, (HRCA-USP), Bauru, SP, Brazil. Electronic address: alvarez@usp.br.
authors.forename: Camila Wenceslau
authors.initials: CW
authors.lastname: Alvarez
authors.affiliation: Clinical Genetics Department of the Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, (HRCA-USP), Bauru, SP, Brazil.
authors.forename: Maria Leine
authors.initials: ML
authors.lastname: Guion-Almeida
authors.affiliation: Clinical Genetics Department of the Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, (HRCA-USP), Bauru, SP, Brazil.
authors.forename: Antonio
authors.initials: A
authors.lastname: Richieri-Costa
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification; D000328:Adult; D000367:Age Factors; D000539:Alveolar Process / Q000473:pathology; D001938:Brazil; D002971:Cleft Lip / Q000145:classification / Q000235:genetics*; D002972:Cleft Palate / Q000145:classification / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D006801:Humans; D008297:Male; D008423:Maternal Age; D010331:Paternal Age; D010641:Phenotype; D012008:Recurrence; D012737:Sex Factors; D014609:Uvula / Q000002:abnormalities
keywords: Cleft lip with cleft palate; Microforms of cleft; Phenotypic variability of clefts