1 Serviço de Cirurgia Plástica Reconstrutiva, Hospital de São José, Centro Hospitalar de Lisboa Central
2 Serviço de Cirurgia Pediátrica, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central
49º Congreso Nacional de la Sociedad Española de Cirurgia Plastica, Reparadora y Estetica
Orofacial clefts rank among the most common congenital malformations of the craniofacial region. Although frequently associated with other birth defects, the proportion and type of additional anomalies varies greatly between studies.
The aim of this study was to find the prevalence and type of associated congenital anomalies in subjects with orofacial clefts from the largest Cleft Lip and Palate Tertiary Care Centre in Portugal. A retrospective study was carried out with all the children with orofacial clefts who had at least one consultation at the Paediatric Surgery Department Clefts Unit at Central Lisbon Hospital Centre, between 1981 and 2012. Demographic and clinical data was recorded and analysed, including presence, number and type of associated malformations. Of the 701 cleft infants in our study, 31.2% had associated malformations. Associated malformations were more frequent in infants who had cleft palate (43.4% of those) than in infants cleft lip and palate (27.5%) or infants with isolated cleft lip (19.4%). Within the group with associated anomalies, 73 (33.3%) had recognized conditions and 146 (66.7%) had multiple congenital anomalies of unknown origin. From those, head and neck malformations were the most common, followed by malformations in the cardiovascular and musculoskeletal systems. The overall prevalence of associated malformations, nearly 1 in 3 infants, stressed the need for a comprehensive evaluation of children with clefts, by a cooperative multidisciplinar cleft team. One third of the subjects had multiple congenital anomalies associated with known chromosomal defects or recognized monogenic syndromes or sequences. Early routine screening for other malformations and genetic counselling seems to be valuable.