Eyebrow Duplication-Polydactyly Syndrome

Abstract

Introduction:

Eyebrow duplication-syndactyly syndrome (EDSS) is an exceedingly rare entity, with only 2 reports in the literature. Here, we describe a novel phenotypic variant characterized by eyebrow duplication, polydactyly, sagittal craniosynostosis, and a ventricular septal defect (VSD), potentially representing new iteration of this syndrome, termed eyebrow duplication-polydactyly syndrome (EDPS).

Methods:

A male infant born after an intrauterine growth-restricted pregnancy presented with scaphocephaly, right thumb duplication, and a systolic murmur. Diagnostic evaluation included cranial CT imaging, echocardiography, and radiographs. Surgical interventions addressed craniosynostosis, thumb duplication, and eyebrow duplication.

Results:

Imaging revealed near-complete fusion of the sagittal suture, and echocardiography demonstrated a small, restrictive perimembranous VSD. At 3 months, the patient underwent endoscopic-assisted strip craniectomy with helmet therapy. At 12 months, he underwent Bilhaut-Cloquet reconstruction of the thumb and excision of the duplicated eyebrow. Pathology confirmed the excised tissue as microscopically consistent with eyebrow skin. No familial history of similar anomalies was present.

Conclusion:

This is the first case report to describe eyebrow duplication-polydactyly syndrome, characterized by polydactyly and craniosynostosis. The absence of family history of similar findings suggests either autosomal recessive inheritance or a de novo autosomal dominant inheritance. Recognition of eyebrow duplication as a diagnostic marker may facilitate earlier identification and characterization of this rare syndrome.