Prader-Willi syndrome is a sporadic condition characterized by neonatal hypotonia, hypogonadism, obesity, intellectual disability, small hands and feet, and characteristic facies. It results from lack of function in one or more paternally inherited genes located at 15q11-q13, either as a result of deletion of the paternal copy or due to maternal uniparental disomy. Treatment of obesity in this condition is imperative.
May. 16, 2020