title: Condition variables in children with craniofacial anomalies: a descriptive study.
abstract: 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.
authors.affiliation: Research Unit Department of Plastic and Reconstructive Surgery, Erasmus Medical Center, Rotterdam, The Netherlands. j.okkerse@erasmusmc.nl
authors.forename: Jolanda M E
authors.initials: JM
authors.lastname: Okkerse
authors.forename: Frits A
authors.initials: FA
authors.lastname: Beemer
authors.forename: Tjeerd H R
authors.initials: TH
authors.lastname: de Jong
authors.forename: Gideon J
authors.initials: GJ
authors.lastname: Mellenbergh
authors.forename: Johan M
authors.initials: JM
authors.lastname: Vaandrager
authors.forename: Christl
authors.initials: C
authors.lastname: Vermeij-Keers
authors.forename: Josien A
authors.initials: JA
authors.lastname: Heineman-de Boer
mesh_terms: D000293:Adolescent; D000367:Age Factors; D001921:Brain / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000150:complications* / Q000235:genetics; D003398:Craniosynostoses / Q000150:complications; D003399:Craniotomy; D005260:Female; D006760:Hospitalization; D006801:Humans; D006972:Hypertelorism / Q000150:complications; D008297:Male; D010641:Phenotype; D012737:Sex Factors; D013577:Syndrome