The objective of the study is to describe the prevalence of a number of condition variables and their interrelations in children with craniofacial anomalies (CFAs). The participants were 217 children with CFAs (125 boys and 92 girls), aged 5 to 16 years. The medical files and brain imaging provided information on most condition variables except for the variable phenotypical expression, on which information was obtained in a rating experiment. Brain anomalies were present in 77 subjects (36%), absent in 79 subjects (36%), and undefined in 61 subjects (28%). Craniosynostosis occurred in 160 children (74%), a syndromic diagnosis in 108 (50%), and clinical hypertelorism in 72 (33%). The mean phenotypical expression score was 4.8 (SD = 2.1), the mean number of hospitalizations was 6.2 (SD = 5.6), and mean age at craniotomy was 10.9 months (SD = 9.3). Many of the condition variables were significantly interrelated. Brain anomalies occur frequently (36%) in syndromic and nonsyndromic forms of CFAs. The most salient condition variables are the presence of brain anomalies, a syndromic diagnosis, clinical hypertelorism, a severe phenotypical expression, and female gender. Individuals presenting with one or more of these condition variables probably form the most severely affected group and require more treatment.

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Keywords Brain anomalies, Hospitalizations, Obliterated sutures, Phenotype, Syndromic diagnosis
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Journal Journal of Craniofacial Surgery
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Okkerse, J.M.E, Beemer, F.A, de Jong, A.A.W, Mellenbergh, G.J, Vaandrager, J.M, Vermeij-Keers, C, & Heineman-De Boer, J.A. (2004). Condition variables in children with craniofacial anomalies: a descriptive study. Journal of Craniofacial Surgery, 15(1). Retrieved from