The oro-dental phenotype in Prader–Willi syndrome: a survey of 15 patients
Penulis
: ISABELLE BAILLEUL-FORESTIER
Penerbit
: IAPD and Blackwell
Ringkasan :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).
Daftar copy :
No. |
Barcode |
Lokasi |
No. Rak |
Ketersediaan |
1 |
08194966 |
Ruang Referensi - Perpustakaan FKIK |
01 |
TIDAK DIPINJAMKAN |
Diproses dalam : 0.15145802497864 detik