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The oro-dental phenotype in Prader–Willi syndrome: a survey of 15 patients
Penulis
: ISABELLE BAILLEUL-FORESTIER
Edisi
: 18
Editor
:
Collation
:
Subyek
:
Penerbit
: IAPD and Blackwell
Tahun
: 2008
ISBN
:
Call Number
:
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 : 0.15342807769775 detik
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