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PRADER-WILLI SYNDROME
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Prader-Willi syndrome is genetic disease requiring clinical and chromosomal diagnostics. The clinical suspicion is raised by a child with dysmorphic features, generalized hypotonia, mental and motor delay of the development. The syndrome pertains to the first diseases under which Prader-Willi syndrome is genetic disease requiring clinical and chromosomal diagnostics. The clinical suspicion is raised by a child with dysmorphic features, generalized hypotonia, mental and motor delay of the development. The syndrome pertains to the first diseases under which is revealed the role of the "imprinting" mechanism. The patients with the Prader-Willi syndrome need constant physiotherapy, rehabilitation, behavioral education, and follow-up by neurologists, endocrinologist and physiotherapists.
Title: PRADER-WILLI SYNDROME
Description:
Prader-Willi syndrome is genetic disease requiring clinical and chromosomal diagnostics.
The clinical suspicion is raised by a child with dysmorphic features, generalized hypotonia, mental and motor delay of the development.
The syndrome pertains to the first diseases under which Prader-Willi syndrome is genetic disease requiring clinical and chromosomal diagnostics.
The clinical suspicion is raised by a child with dysmorphic features, generalized hypotonia, mental and motor delay of the development.
The syndrome pertains to the first diseases under which is revealed the role of the "imprinting" mechanism.
The patients with the Prader-Willi syndrome need constant physiotherapy, rehabilitation, behavioral education, and follow-up by neurologists, endocrinologist and physiotherapists.
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Osoba s Prader-Williho syndrómom
Osoba s Prader-Williho syndrómom
The paper deals with the specifics of a person with a rare genetic disorder called Prader-Willi syndrome. It presents the results of qualitative research in the form of a case stud...
Prader-Willi Syndrome and Sleep-Disordered Breathing
Prader-Willi Syndrome and Sleep-Disordered Breathing
CME Educational Objectives
1.
Identify commonly observed sleep abnormalities in patients with Prader-Willi Syndrome (PWS...
Syndromic failure to thrive and short stature in children: Genetic mechanisms, endocrine implications, and responses to nutritional and growth hormone therapies
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Abstract
Thoracic outlet syndrome (TOS) is a complex and often overlooked condition caused by the compression of neurovascular structures as they pass through the thoracic outlet. ...
The Prader-Willi syndrome Profile: Validation of a New Measure of Behavioral and Emotional Problems in Prader-Willi syndrome.”
The Prader-Willi syndrome Profile: Validation of a New Measure of Behavioral and Emotional Problems in Prader-Willi syndrome.”
Abstract
Background: Prader-Willi syndrome (PWS) is a rare, neurodevelopmental disorder caused by the lack of expression of paternally imprinted genes on chromosome 15q11-1...
The Prader-Willi syndrome Profile: Validation of a new measures of behavioral and emotional problems in Prader-Willi syndrome
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Abstract
Background
Prader-Willi syndrome (PWS) is a rare, neurodevelopmental disorder caused by the lack of expression of paternally imprinted genes on chromosome 15q11-1...
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Abstract
Introduction
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CARACTERIZAÇÃO DAS MANIFESTAÇÕES CLÍNICAS DA SÍNDROME DE PRADER-WILLI E TRATAMENTOS: UMA REVISÃO INTEGRATIVA DE LITERATURA
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A síndrome de Prader-Willi (SPW) é um distúrbio multissistêmico complexo caracterizado por várias manifestações clínicas, incluindo deficiência intelectual, letargia infantil e hip...