Craniofacial features and pathogenic variants in 1,252 children with neurodevelopmental disorders.
Craniofacial anomalies in three or more regions are highly predictive of pathogenic variants.
Craniofacial features and pathogenic variants in 1,252 children with neurodevelopmental disorders.
Neurodevelopmental disorders (neurodevelopmental disorders) are a group of highly heterogeneous diseases with complex genetic etiology.
This study aimed to identify craniofacial features in children with neurodevelopmental disorders for early warning of genetic neurodevelopmental disorders.
Peripheral blood samples were collected from children with neurodevelopmental disorders and their parents for exome sequencing and copy number variation analysis.
Among 1,252 children with neurodevelopmental disorders, there were 283 cases with pathogenic variants and 219 cases of craniofacial abnormalities.
The positive detection rate of pathogenic variants in the craniofacial anomaly group was significantly higher than that in the overall cohort and the cohort of non-craniofacial anomaly (P < 0.01).
Eyes were the most common craniofacial region with anomalies in children with neurodevelopmental disorders carrying pathogenic variants, followed by the head and oral cavity.
Craniofacial anomalies are highly predictive of pathogenic variants in children with neurodevelopmental disorders.
Moreover, the eyes, head and oral cavity are the most common craniofacial regions with anomalies in children with neurodevelopmental disorders carrying pathogenic variants.
For a definite diagnosis, genetic testing is recommended for children with unknown causes of neurodevelopmental disorders and anomalies in three or more craniofacial regions.