Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis.
نویسندگان
چکیده
Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. We report on a four-years-old boy, born to consanguineous parents, with uncommon co-occurrence of Prader-Willi syndrome, 47,XXY karyotype (Klinefelter syndrome) and coronal craniosynostosis. These are different unrelated conditions and it was not described before in the same patient to the best of our knowledge.
منابع مشابه
Dental Management of Patients with Prader Willi Syndrome
Prader–Willi syndrome (PWS) is a genetic disorder which occurs with a frequency of about one in 10,000–30,000 live newborns. Both males and females, and all races are equally affected. PWS is a complex disorder with multiple disabilities, and the main defect is found in the hypothalamus. Child with PWS at the age between 2 and 3 years becomes constantly hungry and if the diet is not controlled,...
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متن کاملRare Association of Sensorimotor Polyneuropathy and Klinefelter Syndrome (47,XXY): Case Report
Objectives: To describe a case with the rare association of Klinefelter syndrome (47,XXY) and peripheral sensorimotor polyneuropathy. Clinical Presentation and Intervention: A 50-year-old man with Klinefelter syndrome was referred to our neurology clinic complaining of pain, numbness and tingles in both legs, which began 10 years prior to admission. Two years before admission, the patient had d...
متن کاملRare association of sensorimotor polyneuropathy and Klinefelter syndrome (47,XXY): case report.
OBJECTIVES To describe a case with the rare association of Klinefelter syndrome (47,XXY) and peripheral sensorimotor polyneuropathy. CLINICAL PRESENTATION AND INTERVENTION A 50-year-old man with Klinefelter syndrome was referred to our neurology clinic complaining of pain, numbness and tingles in both legs, which began 10 years prior to admission. Two years before admission, the patient had d...
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ورودعنوان ژورنال:
- Arquivos de neuro-psiquiatria
دوره 64 2A شماره
صفحات -
تاریخ انتشار 2006