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Craniofacial features and pathogenic variants in 1,252 children with neurodevelopmental disorders
Ran Chen1, Dandan Wu2, Jerry Zhang3
1Child Healthcare Department, Children's Hospital of Nanjing Medical University, Jiangdong South No.8 Road, Nanjing, 210008, China.
BMC Pediatrics
|July 13, 2026
Summary
Craniofacial anomalies in children with neurodevelopmental disorders (NDDs) can indicate underlying genetic causes. Identifying anomalies in three or more regions, especially the eyes, head, or oral cavity, strongly suggests pathogenic variants, warranting genetic testing.
Area of Science:
- Genetics
- Pediatrics
- Medical Diagnostics
Background:
- Neurodevelopmental disorders (NDDs) are heterogeneous genetic conditions.
- Craniofacial anomalies are common in children with NDDs, suggesting a potential diagnostic link.
Purpose of the Study:
- To identify specific craniofacial features in children with NDDs.
- To establish craniofacial anomalies as early warning signs for genetic NDDs.
Main Methods:
- Exome sequencing and copy number variation analysis of blood samples from children with NDDs and their parents.
- Detailed observation and recording of clinical characteristics, including craniofacial anomalies.
Main Results:
- A higher detection rate of pathogenic variants was found in children with craniofacial anomalies compared to the general NDD cohort.
- Eyes, head, and oral cavity were the most frequently affected craniofacial regions in children with pathogenic variants.
- Anomalies in three or more craniofacial regions were associated with a nearly 75% positive detection rate for pathogenic variants.
Conclusions:
- Craniofacial anomalies are strong predictors of pathogenic variants in pediatric NDDs.
- Genetic testing is recommended for children with unexplained NDDs and multiple craniofacial anomalies for definitive diagnosis.
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