# Craniofrontonasal dysplasia: A case report

**Authors:** Kanad Ghosh, Hope Xu, Mélissa Roy, Bakhtiar Yamini, Russell R. Reid

PMC · DOI: 10.1002/pdi3.5 · Pediatric Discovery · 2023-06-10

## TL;DR

This paper presents a case of a rare birth defect called craniofrontonasal dysplasia and discusses its surgical management.

## Contribution

The paper provides updated insights into the management of craniofrontonasal dysplasia through a case report.

## Key findings

- CFND presents with a wide range of symptoms, including cranial and facial malformations.
- Surgical management of CFND requires careful decision-making due to the condition's variability.
- The case highlights current approaches to managing this complex disorder.

## Abstract

Craniofrontonasal dysplasia (CFND) is a rare congenital malformation, which has a wide array of symptoms that can vary drastically between patients. These include coronal synostosis with associated brachycephaly, hypertelorism, cleft lip and palate, and limb malformations, among others. The pleomorphic nature of the disease and numerous clinical decisions required for its management present a unique challenge to craniofacial surgeons when considering indications and timing for surgical intervention. In this report, we present the case of a patient with CFND, their surgical management, and discuss updates in principles of management of CFND.

## Linked entities

- **Diseases:** Craniofrontonasal dysplasia (MONDO:0010570), cleft lip and palate (MONDO:0016044)

## Full-text entities

- **Diseases:** hypertelorism (MESH:D006972), cleft lip and palate (MESH:D002971), limb malformations (MESH:C535856), CFND (MESH:C536456), brachycephaly (MESH:D003398), congenital malformation (OMIM:163000)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12118166/full.md

## References

10 references — full list in the complete paper: https://tomesphere.com/paper/PMC12118166/full.md

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Source: https://tomesphere.com/paper/PMC12118166