MAGAZINE: Student Scientific Magazine December 2
REDUCED MAGAZINE: RevDosDic
ISSN: 2788-6786
RECEIVED: 2024/03/13
ACCEPTED: 2024/04/17
PUBLISHED: 2024/05/09
VOLUME: 7
2
CITE AS: García Jiménez D, Álvarez Pérez RJ. Adolescent with Noonan syndrome. Revdosdic [Inter-net]. 2024 [cited: access date];7(2): e494 [approx. 2 p.]. Available at: https://revdosdic.sld.cu/index.php/revdosdic/article/view/494

Teenager with Noonan Syndrome

Dayane Garcia-Jimenez1
Rolando Javier Álvarez-Pérez2
1 Hermanos Cordovés Provincial Pediatric Hospital.Granma, Cuba.
2 Granma University of Medical Sciences. Manzanillo Faculty of Medical Sciences.Granma, Cuba.

Abstract

Keywords

Case description

A 13-year-old mixed-race male from an urban setting was diagnosed with Noonan syndrome and presented with an acute abdomen. Physical examination revealed low-set ears, superior pectum carinatum and inferior pectum excavatum, a wide mamillary line, and widely separated nipples. Radiological examination revealed variable bone density, cervicodorsal scoliosis, subglottic tracheal stenosis, a widened upper mediastinum, and bronchovascular enhancement consistent with mild pulmonary stenosis and signs of air trapping. He underwent emergency surgery with a diagnosis of acute appendicitis. The patient remains clinically stable and is recovering satisfactorily.

FIGURE 1 : Facial and rib cage dysmorphisms in an adolescent with Noonan Syndrome.

FIGURE 2 : Radiological appearance of the chest of an adolescent with Noonan Syndrome.

AUTHORSHIP CONTRIBUTION

DGJ: conceptualization, formal analysis, research, project administration, original draft, supervision.

RJAP: research, methodology, project management, writing, supervision.

CONFLICTS OF INTEREST

The authors declare that there are no conflicts of interest.

FINANCING

The authors did not receive funding for the development of this article.

BIBLIOGRAPHIC REFERENCES

Copyright 2024 Dayane Garcia-Jimenez et al.

Este es un artículo publicado bajo una licencia del Creative Commons