Pitolisant in an Adolescent with Prader-Willi Syndrome

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Morbid obesity in an adolescent with Prader-Willi syndrome.

Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism. We present a 17 year-old...

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Diabetic retinopathy in an adolescent with Prader-Labhart-Willi syndrome.

The Prader-Labhart-Willi syndrome is characterized by perinatal muscular hypotonia, short stature, mental retardation, hypogonadism (cryptorchidism in males), and severe, progressive obesity. Another feature of this syndrome is the development of glucose intolerance, followed by overt juvenile diabetes mellitus of the maturity onset type (Illig, Ischymi, and Vischer, 1974). Esotropia and amblyo...

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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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Prader-Willi Syndrome

Prader-Willi syndrome is a neurogenetic disorder characterized by hypotonia and feeding difficulties in infancy, followed by hyperphagia, hypogonadism, mental retardation, and short stature. It was the first recognized microdeletion syndrome identified with high-resolution chromosome analysis, the first recognized human genomic imprinting disorder, and the first recognized disorder resulting fr...

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Prader-Willi syndrome.

Prader-Willi syndrome is a multi system disorder characterized by neonatal hypotonia, later obesity, hyperphagia and mental retardation. It occurs sporadically, either as a result of microdeletion of chromosome 15p (70%) or as a result of maternal disomy of chromosome 15 (30%). The major problems encountered by parents are those of hyperphagia, food-seeking and obesity, and conduct disorder, pa...

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ژورنال

عنوان ژورنال: The Journal of Pediatric Pharmacology and Therapeutics

سال: 2021

ISSN: 1551-6776

DOI: 10.5863/1551-6776-26.4.405