The oro-dental phenotype in Prader–Willi syndrome: a survey of 15 patients
Author
: ISABELLE BAILLEUL-FORESTIER
Publisher
: IAPD and Blackwell
Summary :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).
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