Scaphocephaly as a Novel Phenotypic Feature of WDR83OS-Related Neurodevelopmental Disorder: A Case Report With a Novel Variant and Literature Review.

Abstract excerpt

WDR83OS-related neurodevelopmental disorder is a rare autosomal recessive condition characterized by developmental delay, dysmorphic features and variable hepatic involvement, particularly hypercholanaemia. Here, we report a female patient presenting with global developmental delay, syndromic facial features and scaphocephaly due to sagittal craniosynostosis, representing a previously unreported phenotypic...

Topics

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• Craniosynostoses
• Developmental Disabilities
• Neurodevelopmental Disorders
• Phenotype