Prader-Willi syndrome: a case report with atypical developmental features

Prader-Willi syndrome: a case report with atypical developmental features

Author Sewaybricker, Leticia Esposito Google Scholar
Guaragna-Filho, Guilherme Google Scholar
Paula, Georgette Beatriz Google Scholar
Andrade, Juliana Gabriel Ribeiro Google Scholar
Tincani, Bruna J. Google Scholar
D'Souza-Li, Lilia Google Scholar
Lemos-Marini, Sofia Helena Valente de Google Scholar
Maciel-Guerra, Andrea Trevas Google Scholar
Guerra-Junior, Gil Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Universidade Estadual de Campinas (UNICAMP)
Abstract Objective To describe the case of a male Prader-Willi syndrome (PWS) patient with atypical development features.Description: We report the case of a male adolescent with confirmed diagnosis of PWS which presents atypical phenotype. the patient progressed with spontaneous and complete pubertal development, stature in the normal range, and weight control without any pharmacological treatment, except metformin.Comments: PWS is an imprinting paternally inherited disorder of 15q11-13 characterized by hypotonia in infant age, hyperphagia, varied degrees of mental retardation, behavior problems, hypogonadism, short stature, and other less common findings.
Keywords growth
Prader-Willi syndrome
weight loss
Language English
Date 2014-09-01
Published in Journal of Pediatric Endocrinology & Metabolism. Berlin: Walter de Gruyter Gmbh, v. 27, n. 9-10, p. 983-988, 2014.
ISSN 0334-018X (Sherpa/Romeo, impact factor)
Publisher Walter de Gruyter Gmbh
Extent 983-988
Access rights Closed access
Type Article
Web of Science ID WOS:000341429100029

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