Differential Diagnosis in Prader-Willi Syndrome
Prader-Willi syndrome (PWS) is a complex clinical condition characterized by abnormalities of longitudinal and pondel growth, central nervous system dysfunctions, endocrine disturbances, and dysmorphic features. In 50-70% of the cases the syndrome is associated with an abnormality of chromosome 15, most often a deletion of proximal parts of its long arm (del 15qll–ql3). Signs and symptoms of PWS are listed in Table 2.1. PWS can be divided into two phases that present different diagnostic problems.
KeywordsDown Syndrome Spinal Muscular Atrophy Myotonic Dystrophy Congenital Muscular Dystrophy Pipecolic Acid
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