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

## TL;DR

A new genetic variant in the NFIA gene is linked to a rare skull and hand deformity in a young boy.

## Contribution

A novel heterozygous pathogenic NFIA variant is reported in a case of metopic craniosynostosis with preaxial polysyndactyly.

## Key findings

- A novel NFIA variant was identified in a patient with metopic craniosynostosis and preaxial polysyndactyly.
- The case highlights the rare association of NFIA-related disorder with craniosynostosis.
- Surgical management and outcomes for the patient are detailed.

## Abstract

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 NFIA variant, in a young boy presenting with metopic craniosynostosis with preaxial polysyndactyly. Craniosynostosis is a rarely reported feature of Nuclear factor I/A (NFIA) related disorder. This report highlights the investigations that were performed to identify this variant and details the child’s surgical management and outcome.