부산대학교 도서관

The article presents information on the Laurence-Moon-Biedl syndrome. In 1866, two British ophthalmologists first recorded the association of retinitis pigmentosa with short stature, mental retardation, hypogenitalism, and obesity. Later, two ophthalmologists in 1920 and in 1922 reported several similar cases and added to the syndrome the features of positive family history, polydactyly, and other congenital malformations such as genital dystrophy, atresia ani, deformities of the skull, and digestive disturbances. The article also cites two case studies related to Laurence-Moon-Biedl syndrome.