Fronto-Orbital Advance in a Patient With Roberts Syndrome

Area of Science:

• Genetics
• Pediatrics
• Skeletal Dysplasia

Background:

• Roberts Syndrome is an exceptionally rare genetic disorder characterized by limb malformations and craniofacial abnormalities.
• It affects approximately 150 individuals globally, with a significantly low survival rate.
• Skeletal variations are common, but specific presentations like craniosynostosis are less frequently documented.

Observation:

• A case report details a female patient diagnosed with Roberts Syndrome.
• The patient presented with coronal craniosynostosis and brachycephaly.
• This specific combination necessitated surgical management.

Findings:

• Roberts Syndrome can manifest with diverse skeletal anomalies beyond typical limb defects.
• Craniosynostosis, a premature fusion of skull sutures, can be a feature of Roberts Syndrome.
• Brachycephaly, a shortened head shape, was observed in this patient.

Implications:

• This case underscores the importance of recognizing skeletal variations in Roberts Syndrome.
• Early diagnosis and comprehensive management, including surgical intervention for craniosynostosis, are crucial.
• Addressing craniosynostosis can prevent potential complications like brain compression and endocranial hypertension.