Abstract
Introduction: Cleft lip and/or palate (CL/P) is the most common congenital craniofacial anomaly, with multifactorial etiology. An analysis of cases in multiplex families - with more than one affected family member, other than first degree - may lead to a better delimitation of the genetic causes of this anomaly, especially those caused by rare variants. Objectives: The objective of this work was to identify the most prevalent types of cleft lip and palate in patients treated in a specialized service, verifying the familial recurrence of CL/P, in addition to the presence of other comorbidities present in these families. Methods: Retrospective, cross-sectional study of medical records analysis. The medical records of 50 patients with cleft lip and palate treated at a specialized reference center in Curitiba (PR) were selected and the types of clefts, family history, especially in more distant relatives, and the presence of other comorbidities were analyzed. Results: 60% of patients had cleft lip and palate; 30% had only cleft lip and 8% had only cleft palate. Of the cleft lip and palate, 47.8% were unilateral on the left; 15.2% unilateral to the right and 34.8% bilateral. Regarding location, 32% of the fissures were pre-incisive foramen; 8% post-incisive foramen; 58% incisive foramen transformation. When the sex of affected individuals, 44% were male and 56% were female. In family members, it was observed that 32 families had cleft lip and palate in second and third degree relatives, characterizing themselves as multiplex families. Conclusion: The profile of the patient with cleft lip and palate is female, with unilateral cleft lip and palate on the left and incisive transforamen. In families, we observed that the most common type of cleft is also segregating to the lip and palate and that 64% of isolated individuals have multiplex families.
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