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The oro-dental phenotype in Prader–Willi syndrome: a survey of 15 patients

Prader–Willi syndrome (PWS) is a complex disorder characterized by severe neonatal hypotonia and feeding problems, childhood-onset hyperphagia and obesity, short stature, facial dysmorphy, hypogonadism, and learning and behavioural difficulties 1 . It is a rare disorder caus...

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Main Author: ISABELLE BAILLEUL-FORESTIER
Format: Koleksi Audio Visual
Language: Bahasa Inggris
Published: IAPD and Blackwell 2008
Subjects:
Online Access: http://oaipmh-jogjalib.umy.ac.idkatalog.php?opo=lihatDetilKatalog&id=94118
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id oai:lib.umy.ac.id:94118
recordtype oai_dc
spelling oai:lib.umy.ac.id:941182021-06-16T13:12:44ZThe oro-dental phenotype in Prader–Willi syndrome: a survey of 15 patientsISABELLE BAILLEUL-FORESTIER Prader–Willi syndrome (PWS) is a complex disorder characterized by severe neonatal hypotonia and feeding problems, childhood-onset hyperphagia and obesity, short stature, facial dysmorphy, hypogonadism, and learning and behavioural difficulties 1 . It is a rare disorder caused by genetic defects in certain regions of chromosome 15q11–13, including paternal interstitial deletion, maternal uniparental disomy and imprinting defect 2 . The prevalence of PWS is estimated to be 1 in every 26 000 live births 3 . Oro-facial manifestations reported in PWS include almond-shaped eyes with up-slanting palpebral fissures and a triangular mouth (Figs 1 and 2).IAPD and Blackwell2008Koleksi Audio Visual Bahasa Inggrishttp://oaipmh-jogjalib.umy.ac.idkatalog.php?opo=lihatDetilKatalog&id=94118
institution Universitas Muhammadiyah Yogyakarta
collection Perpustakaan Yogyakarta
language Bahasa Inggris
topic
spellingShingle
ISABELLE BAILLEUL-FORESTIER
The oro-dental phenotype in Prader–Willi syndrome: a survey of 15 patients
description Prader–Willi syndrome (PWS) is a complex disorder characterized by severe neonatal hypotonia and feeding problems, childhood-onset hyperphagia and obesity, short stature, facial dysmorphy, hypogonadism, and learning and behavioural difficulties 1 . It is a rare disorder caused by genetic defects in certain regions of chromosome 15q11–13, including paternal interstitial deletion, maternal uniparental disomy and imprinting defect 2 . The prevalence of PWS is estimated to be 1 in every 26 000 live births 3 . Oro-facial manifestations reported in PWS include almond-shaped eyes with up-slanting palpebral fissures and a triangular mouth (Figs 1 and 2).
format Koleksi Audio Visual
author ISABELLE BAILLEUL-FORESTIER
author_sort ISABELLE BAILLEUL-FORESTIER
title The oro-dental phenotype in Prader–Willi syndrome: a survey of 15 patients
title_short The oro-dental phenotype in Prader–Willi syndrome: a survey of 15 patients
title_full The oro-dental phenotype in Prader–Willi syndrome: a survey of 15 patients
title_fullStr The oro-dental phenotype in Prader–Willi syndrome: a survey of 15 patients
title_full_unstemmed The oro-dental phenotype in Prader–Willi syndrome: a survey of 15 patients
title_sort oro-dental phenotype in prader–willi syndrome: a survey of 15 patients
publisher IAPD and Blackwell
publishDate 2008
url http://oaipmh-jogjalib.umy.ac.idkatalog.php?opo=lihatDetilKatalog&id=94118
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score 14.79448

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