Abstract
AbstractCleft lip and/or palate (CL/P) represent the most common congenital anomalies of the face, corresponding to approximately 65% of all malformations of the craniofacial region. Aimto describe unusual clinical cases of non-syndromic CL/P (CL/PNS), diagnosed in a reference service in Minas Gerais, Brazil, and correlate these alterations with possible risk factors. Materials and Methodswe carried out a retrospective study, between the years of 1992 and the 1st half of 2009, from medical records. ResultsAmong the 778 cases of CL/PNS diagnosed in the period of 17 years, 5 (0.64%) were unusual CL/PNS, and all patients were male. It was found that among the 5 patients, 2 had incomplete right cleft lip with incomplete cleft palate, 2 were affected by left incomplete cleft lip and incomplete cleft palate, and 1 had a cleft lip and palate associated with complete right cleft palate. Risk factors such as consanguinity, maternal smoking and alcohol consumption, medication usage during pregnancy, history of abortion and/or stillbirths and maternal diseases were not associated with unusual CL/PNS. ConclusionsThis study described 5 unusual cases of CL/PNS in a Brazilian population; no associations with the risk factors analyzed were seen. It also confirmed the unusualness of the prevalence of such alterations.
Highlights
Cleft lip and/or palate (CL/P) (OMIM 119530) represents the most common of the congenital facial anomalies, making up approximately 65% of all craniofacial malformations[1]
This study described 5 unusual cases of CL/PNS in a Brazilian population; no associations with the risk factors analyzed were seen
Considering the type of cleft, 2 patients had incomplete direct cleft lip associated with the incomplete palate cleft (Fig. 1); 2 had incomplete left cleft lip plus incomplete palate cleft (Fig. 2) and 1 had complete left-side palate cleft plus a complete right-side palate cleft
Summary
Cleft lip and/or palate (CL/P) (OMIM 119530) represents the most common of the congenital facial anomalies, making up approximately 65% of all craniofacial malformations[1]. According to Brazilian epidemiological surveys, the incidence of CL/P varies between 0.19 to 1.54 for every 1,000 births[4,5,6]. It is not known whether this epidemiological difference is real or associated with methodological differences[6]. Even being a common congenital defect, CL/P etiopathogeny is still uncertain[9]. This is mostly a reflex of the complexity and diversity of the molecular mechanisms involved in embryogenesis, with the participation of multiple genes and the influence of environmental factors[10,11]
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