Study of patients with cleft lip and palate with consanguineous parents

Cleft lip and/or palate (CL/P) are the most common congenital anomalies of the face. CL/P are non-syndromic (CL/PNS) in about 70% of subjects. Aim: To describe clinical cases of non-syndromic CL/P (CL/PNS) associated with consanguinity, diagnosed at a reference hospital in Minas Gerais, Brazil, and to correlate these alterations with possible risk factors. Series and Methods: A retrospective study at a reference hospital for craniofacial deformities in Minas Gerais, Brazil from 2006 to 2009 based on data in medical records. Results: Of 246 CL/PNS cases diagnosed and treated at the institution, 15 (6.1%) were CL/PNS with reported first-degree consanguinity; 73.3% occurred in males. Four of 15 patients had complete right cleft palate and lip (CLP), 4 presented complete cleft palate and lip (right and left), 3 had complete unilateral left CLP, 3 had isolated cleft palate, and 1 presented cleft lip only. Among the risk factors, only three mothers reported smoking during pregnancy. Conclusions: CLP (unilateral or bilateral) were more frequent in the group with a history of first-degree consanguinity; males predominated. Among the risk factors, only smoking was observed in three cases.