Central nervous malformations in presence of clefts reflect developmental interplay

Children with cleft lip and/or cleft palate (CLP) often have additional congenital malformations. The reported incidences are variable and presumed underlying mechanisms are rarely discussed. In this study, 245 CLP patients of a geographically defined population were retrospectively reviewed for additional major malformations and minor anomalies. Malformation incidences in the CLP population were compared to those in a literature-based cohort from the general population. Of the CLP patients, 21% showed either major malformations or minor anomalies. In one-fifth of them a recognized syndrome was identified. Two thirds of the CLP patients with minor anomalies also had major malformations. Major malformations in non-syndomic CLP patients were found with decreasing frequency in the musculoskeletal (5.1%), central nervous (4.2%), urogenital (3.8%) and cardiovascular (3.4%) systems. Malformations in these organ systems and minor anomalies should be ruled out by a specialist. The rise in malformation incidence, when compared to the general population, was highest for organs of ectodermal and ecto-mesodermal origin: central nervous system (13 times), ocular (7 times) and craniofacial system (7 times). The result reflects the close interplay of craniofacial and brain development. textcopyright 2006 International Association of Oral and Maxillofacial surgeons.