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.

Additional Metadata
Keywords Brain anomalies, Hospitalizations, Obliterated sutures, Phenotype, Syndromic diagnosis
Persistent URL hdl.handle.net/1765/101117
Journal Journal of Craniofacial Surgery
Note Not covered by subscription
Citation
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 http://hdl.handle.net/1765/101117