title: Central nervous malformations in presence of clefts reflect developmental interplay.
abstract: 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-syndromic 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.
authors.affiliation: Clinic for Reconstructive Surgery, Division of Cranio-Maxillofacial Surgery, University Hospital Basel, Spitalstrasse 21, CH-4031 Basel, Switzerland. anmueller@uhbs.ch
authors.forename: A A
authors.initials: AA
authors.lastname: Mueller
authors.forename: R
authors.initials: R
authors.lastname: Sader
authors.forename: K
authors.initials: K
authors.lastname: Honigmann
authors.forename: H-F
authors.initials: HF
authors.lastname: Zeilhofer
authors.forename: K
authors.initials: K
authors.lastname: Schwenzer-Zimmerer
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology; D018376:Cardiovascular Abnormalities / Q000453:epidemiology; D002675:Child, Preschool; D002971:Cleft Lip / Q000453:epidemiology*; D002972:Cleft Palate / Q000453:epidemiology*; D015331:Cohort Studies; D019465:Craniofacial Abnormalities / Q000453:epidemiology; D003430:Cross-Sectional Studies; D005060:Europe / Q000453:epidemiology; D005124:Eye Abnormalities / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D009139:Musculoskeletal Abnormalities / Q000453:epidemiology; D009421:Nervous System Malformations / Q000453:epidemiology*; D012189:Retrospective Studies; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000453:epidemiology