Case Report


Schaaf-Yang syndrome: A novel variant in MAGEL2 gene in the first Brazilian preterm neonate

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1 School of Medicine, Universidade Federal do Pará, Belém, Pará, Brazil

2 University Hospital and School of Medicine, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil

3 School of Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America

4 Population Health Sciences Institute, Newcastle University, Newcastle upon Tyne, United Kingdom

5 School of Medicine, Universidade Estadual do Pará, Marabá, Pará, Brazil

6 Department of Pediatrics, Universidade Federal do Pará, Belém, Pará, Brazil

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Guilherme Augusto Lira Ribeiro de Andrade

Travessa Angustura, 2086 - Pedreira, Belém, Pará - PA, 66087-710,

Brazil

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Article ID: 101144Z01GA2020

doi: 10.5348/101144Z01GA2020CR

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How to cite this article

de Andrade GALR, de Oliveira Silva TB, do Nascimento IJB, Boath A, Cunha KC, Chermont AG. Schaaf-Yang syndrome: A novel variant in MAGEL2 gene in the first Brazilian preterm neonate. Int J Case Rep Images 2020;11:101144Z01GA2020.

ABSTRACT


Introduction: Schaaf-Yang syndrome is a rare genetic disorder first described in 2013. We aim to publish the first Brazilian case report of Schaaf-Yang syndrome as well as to describe the first variant p.Val701Glysfs*12 of a patient in a neonatal intensive care unit in a tertiary hospital in Belém, Brazil.

Case Report: A preterm neonate patient 37-2/7 weeks, admitted to a tertiary private hospital in the North Region of Brazil, was promptly diagnosed with Schaaf-Yang syndrome and received the adequate clinical management. Clinical manifestations of the disease were associated to neonatal hypotonia, intellectual disability and developmental delay, hypogonadism, and hyperphagia.

Conclusion: After evaluating potential and more commonly genetic diseases, a prompt and complete genetic assessment is helpful to establish a definite diagnosis of Schaaf-Yang syndrome and correlated diseases.

Keywords: Case report, Congenital, Genetic disease, Inborn, Intensive care units, Neonatal, Newborn, Respiratory distress syndrome, Schaaf-Yang syndrome

SUPPORTING INFORMATION


Acknowledgments

The authors thankfully acknowledge patient’s parents for their agreement and participation in the report. This study was financially supported by the Child’s Health Maternity Hospital, Belém, Brazil.

Author Contributions

Guilherme Augusto Lira Ribeiro de Andrade - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published

Thaís Barros de Oliveira Silva - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published

Israel Júnior Borges do Nascimento - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published

Anna Boath - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published

Katiane da Costa Cunha - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published

Aurimery Gomes Chermont - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published

Guarantor of Submission

The corresponding author is the guarantor of submission.

Source of Support

None

Consent Statement

Written informed consent was obtained from the patient for publication of this article.

Data Availability

All relevant data are within the paper and its Supporting Information files.

Conflict of Interest

Authors declare no conflict of interest.

Copyright

© 2020 Guilherme Augusto Lira Ribeiro de Andrade et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.