ERF-Related Craniosynostosis in a Patient With Hypochondroplasia: A Case Report.

Abstract

We report a case of multiple suture craniosynostosis in a patient with hypochondroplasia. The patient presented with short stature marked by a relatively long trunk and short extremities. The clinical and radiological findings were suggestive of hypochondroplasia. Additionally, craniosynostosis was identified during the evaluation, which is an unusual finding in hypochondroplasia. To further investigate, exome sequencing was performed, revealing previously reported pathogenic heterozygous variants in FGFR3 and ERF genes. Exome sequencing not only enhances the accuracy of diagnosing individual cases of genetic skeletal disorders but also contributes to the collective knowledge base, advancing future research in the field.