# Multidisciplinary Management of a Pediatric Patient With Congenital Anomalies Syndrome Without an Identified Genetic Mutation

**Authors:** Sungmin Song, Obioha Louis Okoro

PMC · DOI: 10.7759/cureus.64530 · Cureus · 2024-07-14

## TL;DR

This case report details the complex care of a 10-year-old girl with congenital anomalies and no known genetic cause, highlighting the need for multidisciplinary and long-term medical management.

## Contribution

The paper contributes a detailed case study emphasizing the importance of coordinated, multidisciplinary approaches in managing congenital anomalies without a genetic diagnosis.

## Key findings

- The patient required interventions such as tracheostomy and G-tube placement.
- Long-term follow-up and comprehensive care were essential for managing her complex conditions.
- The case highlights the challenges of managing congenital anomalies without an identified genetic mutation.

## Abstract

Congenital anomalies syndrome without an identified genetic mutation often presents significant challenges in pediatric care, requiring coordinated efforts across multiple specialties. This case reports a 10-year-old female patient with complex medical conditions, which exemplifies the intricate nature of managing children, necessitating long-term follow-up and comprehensive care. This case report aims to provide an in-depth analysis of her medical journey, including various interventions like tracheostomy and G-tube placement, and management strategies employed to address her congenital anomalies and associated health issues.

## Full-text entities

- **Diseases:** Congenital Anomalies Syndrome (MESH:D000013)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC11321745/full.md

## References

16 references — full list in the complete paper: https://tomesphere.com/paper/PMC11321745/full.md

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Source: https://tomesphere.com/paper/PMC11321745