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Updated: Jul 2, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Oculocerebrocutaneous syndrome: a case report.

Ann P Murchison¹, C Robert Bernardino

¹Department of Ophthalmology, Section of Oculoplastic and Orbital Surgery, Emory University School of Medicine, Atlanta, Georgia, USA. apmurch@emory.edu

Orbit (Amsterdam, Netherlands)

|August 22, 2008

Summary

Oculocerebrocutaneous syndrome is a rare congenital condition with significant systemic findings. Early diagnosis is crucial for managing this uncommon disorder and its associated ocular malformations.

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Last Updated: Jul 2, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Area of Science:

Medical Genetics
Ophthalmology
Developmental Biology

Background:

Congenital ocular malformations frequently present with systemic abnormalities.
Accurate diagnosis is vital, especially in complex syndromes like oculocerebrocutaneous syndrome due to severe systemic implications.

Observation:

This report details a rare case of oculocerebrocutaneous syndrome.
The case highlights the characteristic ocular and systemic features associated with this condition.

Findings:

The case presentation illustrates common clinical manifestations of oculocerebrocutaneous syndrome.
Specific ocular malformations and associated systemic findings are demonstrated.

Implications:

Understanding the phenotype of oculocerebrocutaneous syndrome aids in early identification and management.
This case contributes to the literature on rare congenital disorders, emphasizing diagnostic importance.