Lee, PDK , Allen, DB , LARA ANGULO, MAYRA ANABEL, Cappa, M , Carrel, AL , Castro-Magana, M , Chiumello, G , Davies, PSW , Eiholzer, U , Grugni, G , Hauffa, BP , Hintz, RL , Lämmer, C , Mogul, HR , Myers, SE , Partsch, CJ , Pescovitz, OH , Ritzen, EM , Rosenfeld, RG , Sipilä, I , Wilson, DM
No
Endocrinologist
Article
Científica
4
4
0.382
0.168
01/07/2000
000088672200015
Prader-Willi syndrome (PWS) is a disabling condition characterized by hypotonia, hyperphagia, obesity, short stature, delayed or absent puberty, and mental retardation. The syndrome complex was first described in 1956 by Dr. Andrea Prader and colleagues [1]. In the 1980s, a characteristic genetic defect was identified involving deletion of paternal alleles at chromosome 15q11-13 [2-6]. This occurs by deletion of alleles on the paternal copy of chromosome 15q, an absent paternal chromosome 15q with maternal disomy, or, rarely, by mutations of the imprinting center of chromosome 15q. The estimated population prevalence of PWS is 1 in 15,000 live births. Short stature is a defining feature of PWS [1, 7]. Children with PWS typically have a gradually declining linear growth velocity beginning in early childhood [8-10]. Virtually all adults with PWS are significantly below their midparental height, with an average adult height approximately 2 SD below the general population average. This degree of short stature creates a significant barrier to social adaptation and performance.