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Condition variables in children with craniofacial anomalies: a descriptive study
Jolanda M E Okkerse1, Frits A Beemer, Tjeerd H R de Jong
1Research Unit Department of Plastic and Reconstructive Surgery, Erasmus Medical Center, Rotterdam, The Netherlands. j.okkerse@erasmusmc.nl
Insights
This study details common conditions in children with craniofacial anomalies (CFAs), finding brain anomalies, syndromic diagnoses, and severe phenotypes are frequent and interrelated, indicating a need for tailored treatment.
Area of Science:
- Pediatric medicine
- Genetics
- Neurosurgery
Background:
- Craniofacial anomalies (CFAs) present complex challenges in pediatric care.
- Understanding the prevalence and interplay of associated conditions is crucial for effective management.
Purpose of the Study:
- To describe the prevalence of various condition variables in children with CFAs.
- To investigate the interrelations among these variables.
- To identify key factors associated with severe cases requiring intensive treatment.
Main Methods:
- Retrospective analysis of medical files and brain imaging for 217 children (aged 5-16) with CFAs.
- Phenotypical expression assessed via a rating experiment.
- Data collected on brain anomalies, craniosynostosis, syndromic diagnosis, and clinical hypertelorism.
Main Results:
- Brain anomalies were present in 36% of subjects.
- Craniosynostosis (74%) and syndromic diagnosis (50%) were highly prevalent.
- Significant interrelations were found between variables like brain anomalies, syndromic diagnosis, severe phenotype, and female gender.
Conclusions:
- Brain anomalies are common in both syndromic and non-syndromic CFAs.
- Key indicators of severe disease include brain anomalies, syndromic diagnosis, clinical hypertelorism, and severe phenotypical expression.
- Children with these combined factors likely represent the most severely affected group, necessitating comprehensive and specialized treatment plans.
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.
