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Craniofrontonasal dysplasia: A case report.

Kanad Ghosh¹, Hope Xu¹, Mélissa Roy¹

¹Section of Plastic and Reconstructive Surgery Department of Surgery University of Chicago Chicago Illinois USA.

Pediatric Discovery

|July 8, 2025

Summary

Craniofrontonasal dysplasia (CFND) is a rare condition with varied symptoms. This report details a CFND patient's surgical management and discusses updated treatment principles for this complex craniofacial malformation.

Keywords:

EFNB1 craniofrontonasal dysplasia hypertelorism

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Area of Science:

Craniofacial Surgery
Genetics
Pediatric Surgery

Background:

Craniofrontonasal dysplasia (CFND) is a rare congenital malformation with diverse clinical presentations.
Symptoms can include coronal synostosis, brachycephaly, hypertelorism, cleft lip/palate, and limb abnormalities.
The variability and complexity of CFND pose significant challenges for surgical management.

Purpose of the Study:

To present a case study of a patient diagnosed with Craniofrontonasal dysplasia (CFND).
To describe the surgical management undertaken for the presented CFND case.
To discuss current principles and updates in the management of CFND.

Main Methods:

Case report presentation.
Review of surgical interventions and patient outcomes.
Discussion of contemporary management strategies for CFND.

Main Results:

The report details the specific surgical interventions performed on the CFND patient.
The discussion highlights evolving approaches to managing CFND.
The case illustrates the practical application of management principles.

Conclusions:

Effective management of Craniofrontonasal dysplasia requires a tailored, multidisciplinary approach.
Surgical timing and indications are critical decision points in CFND care.
Ongoing updates in management principles are essential for optimizing patient outcomes.