Detection of a new heterozygous pathogenic NFIA variant in metopic craniosynostosis with preaxial polysyndactyly: A case report

Craniosynostosis is a congenital condition caused by the early fusion of one or more skull vault sutures during embryological development, resulting in an abnormal head shape. This condition has been linked to many gene variants. The authors report a case of a novel heterozygous pathogenic <i>NFIA</i> variant, in a young boy presenting with metopic craniosynostosis with preaxial polysyndactyly. Craniosynostosis is a rarely reported feature of <i>Nuclear factor I/A (NFIA)</i> related disorder. This report highlights the investigations that were performed to identify this variant and details the child's surgical management and outcome.