Il bambino con sindrome di Prader-Willi - Societa' Italiana Obesità ...
Il bambino con sindrome di Prader-Willi - Societa' Italiana Obesità ...
Il bambino con sindrome di Prader-Willi - Societa' Italiana Obesità ...
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DIAGNOSI DIFFERENZIALE<br />
sindromi associate ad ipotonia neonatale<br />
Malattie neuromuscolari<br />
sindromi associate a ritardo mentale e<br />
obesità<br />
<strong>sindrome</strong> <strong>di</strong> Bardet-Biedl<br />
<strong>sindrome</strong> <strong>di</strong> Borjeson-Forssman-Lehman<br />
<strong>sindrome</strong> <strong>di</strong> Cohen<br />
Osteo<strong>di</strong>strofia ere<strong>di</strong>taria <strong>di</strong>Albright<br />
Bardet-Biedl syndrome<br />
# 209900 (OMIM) Autosomal recessive inheritance<br />
GROWTH : Obesity<br />
HEAD AND NECK :<br />
Rod-<strong>con</strong>e dystrophy, onset be end of 2nd decade,<br />
Retinitis pigmentosa , Strabismus ,Cataracts<br />
High arched palate, Dental crow<strong>di</strong>ng , Hypodontia ,<br />
Small tooth roots<br />
CARDIOVASCULAR: Left ventricular<br />
hypertrophy, Congenital heart defects, Hypertension<br />
ABDOMEN: Hepatic fibrosis , Hirschsprung<br />
<strong>di</strong>sease<br />
GENITOURINARY: Hypogona<strong>di</strong>sm, Renal<br />
anomalies, Nephrogenic <strong>di</strong>abetes insipidus<br />
SKELETAL: Polydactyly ,Brachydactyly<br />
NEUROLOGIC: Speech <strong>di</strong>sorder ,Speech<br />
delay,Learning <strong>di</strong>sabilities,Developmental delay,<br />
Ataxia,Poor coor<strong>di</strong>nation
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