Laurence-Moon syndrome.

Abstract

In 1866, Laurence and Moon described four members of a single family with a combination of mental retardation, short stature, obesity, hypogenitalism (unusually small genitalia), and retinitis pigmentosa (constriction of the visual fields leading to progressive vision loss). Hutchinson (1900) later wrote about the same family, adding that spastic paraplegia (increased lower extremity muscle tone) was present in three of the four children. Bardet (1920) and Biedl(1922) independently wrote regarding a similar syndrome that included polydactyly (having more than five fingers or toes per hand or foot). Historically, these various clinical presentations have been recognized as the single disorder Laurence-Moon-Bardet-Biedl syndrome (LMBBS). Recently, however, many researchers have supported the nosologic splitting of LMBBS into the Laurence-Moon syndrome (LMS) and the Bardet-Biedl syndrome (BBS; Farag