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Prader-Willi syndrome
Prader-Willi syndrome is characterized by severe infantile hypotonia with poor suck and failure to thrive; hypogonadism causing genital hypoplasia and pubertal insufficiency; characteristic facial
Prader-Willi syndrome: consensus diagnostic criteria.
TLDR
Diagnostic criteria for Prader-Willi syndrome were developed by consensus of seven clinicians experienced with the syndrome in consultation with national and international experts to ensure uniform diagnosis for future clinical and laboratory research in PWS.
Prader-Willi Syndrome
The major features of this multisystem disorder include prenatal and neonatal central hypotonia causing poor suck and infantile failure to thrive, characteristic facial appearance, developmental
Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.
A Consensus Conference utilizing available literature and expert opinion sponsored by the American College of Medical Genetics in October 1995 evaluated the rational approach to the individual with
Obsessions and compulsions in Prader-Willi syndrome.
TLDR
The PWS and OCD groups showed similar levels of symptom severity and numbers of compulsions; they also showed more areas of symptom similarity than difference, and increased risks of OCD in persons with PWS are strongly indicated.
The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.
TLDR
A retrospective review of patients with PWS confirmed with genetic testing to assess the validity and sensitivity of clinical diagnostic criteria published before the widespread availability of testing for all affected patients and recommend revised clinical criteria.
Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.
TLDR
It is postulate that the END repeats flanking 15q11-q13 mediate homologous recombination resulting in deletion and proposed that active transcription of these repeats in male and female germ cells may facilitate the homologously recombination process.
Prader-Willi and Angelman syndromes: sister imprinted disorders.
TLDR
The genetic relationship between PWS and AS makes them unique and potentially highly instructive disorders that contribute substantially to the population burden of cognitive impairment.
Growth Hormone Research Society Workshop Summary: Consensus Guidelines for Recombinant Human Growth Hormone Therapy in Prader-Willi Syndrome
TLDR
Following a multidisciplinary evaluation, preferably by experts, rhGH treatment should be considered for patients with genetically confirmed PWS in conjunction with dietary, environmental, and lifestyle interventions.
Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15.
TLDR
Although the frequency and severity of most other manifestations of PWS did not differ significantly between the two groups, those with UPD were less likely to have a "typical" facial appearance and some of the minor manifestations such as skin picking, skill with jigsaw puzzles, and high pain threshold.
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