Prader-Labhart-Willi Syndrome is a complex, multisystem sporadic disorder which presents during childhood and proceeds into adulthood.
|
Prader-Labhart-Willi syndrome |
The major features include infantile hypotonia, developmental delay, hypogonadism with abnormal sexual maturation, mental retardation and behavior abnormalities, short stature with small hands and feet, massive obesity with diabetes mellitus, dysmorphic facial features, and marked dental caries and enamel hypoplasia. Recently, a deletion of chromosome 15 has been found in a large percentage of these patients, but the exact cause and genetic transmission has not yet been determined.
|
7-year-old boy with obesity, short stature, characteristic shape of the mouth, acromicria, genua valgum, and hypogonadism has Prader-Labhart-Willi syndrome. |
First described in 1956 by A. Prader, A. Labhart, and H. Willi, all three Swiss pediatricians and internists, on the basis of observation obtained from nine children with the tetrad of short stature, mental retardation, severe obesity, and small hands and feet. In 1961, muscle hypotonia in infancy was added to the phenotype. Diabetes mellitus usually develops in childhood.