819 Orofacial Clefts and Associated Congenital Anomalies: The 18 Years Experience of a Multidisciplinary Group in a Tertiary Hospital in Portugal

Abstract

Background: Orofacial clefts are among the most common birth defects, arising in about 1.7 per 1000 newborns. This heterogeneous group of disorders can occur as an isolated condition or associated with other congenital anomalies or syndromes.Aim: To evaluate associated malformations in a population of orofacial cleft patients.Methods: Retrospective study of the medical records of patients that attended the Cleft Lip and Palate Multidisciplinary Group at Hospital S. João, Porto- Portugal, from January 1992 through December 2009. Patients were divided in four groups: cleft lip (CL), cleft lip and palate (CL/P), isolated cleft palate (CP) and atypical cleft (AC). Further categorization included sex, affected relatives, associated congenital anomalies and syndromes.Results: Of the 340 patients included, 57.6% were males; 38.5% had CP, 37.4% had CL/P, 22.9% had CL and 1.2% had AC. Nineteen percent had known affected relatives. Associated congenital anomalies were found in 52.6% of patients, 43% of which had recognizable syndromes. Pierre-Robin (n=34) and 22q11.2 microdelection syndrome (n=12) were the most common. Orofacial region was the most common site of associated anomalies, followed by the cardiovascular and central nervous systems. Different groups of anomalies arose equally in both genders, except for orofacial region that affected more females (p< 0.05) and genitourinary that affected more males (p< 0.05). The majority of anomalies with or without recognizable syndromes occurred in CP patients (65.6%CI95%[57.3;73.9%]).Conclusion: Due to the increased risk of associated malformations in children with clefts further diagnostic investigation might be important, especially regarding those affecting cardiovascular and nervous systems.