Prader-Willi syndrome: a case report with atypical developmental features.
| Autor: | Sewaybricker LE, Guaragna-Filho G, Paula GB, Andrade JG, Tincani BJ, D'Souza-Li L, Lemos-Marini SH, Maciel-Guerra AT, Guerra-Júnior G |
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| Jazyk: | angličtina |
| Zdroj: | Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2014 Sep; Vol. 27 (9-10), pp. 983-8. |
| DOI: | 10.1515/jpem-2013-0500 |
| Abstrakt: | 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. |
| Databáze: | MEDLINE |
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