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LAURENCE-MOON-BIEDL SYNDROME

1942; American Medical Association; Volume: 63; Issue: 4 Linguagem: Inglês

10.1001/archpedi.1942.02010040101006

2374-2976

Roland B. Scott,

Hedgehog Signaling Pathway Studies

The so-called Laurence-Moon-Biedl syndrome is a fairly rare 1 condition characterized by six cardinal signs, namely obesity, atypical retinitis pigmentosa, mental deficiency, genital dystrophy, polydactylism and familial occurrence. In the literature a number of associated anomalies have been reported, 2 such as genu valgum, coxa vara, scoliosis, shortness of the hands and feet, dwarfism, deformities of the skull, deafness, strabismus, nystagmus and congenital heart disease. All of the patients whose cases are described under this diagnosis do not present the complete classic syndrome. Thus of 102 patients data on whom were tabulated by Warkany, Frauenberger and Mitchell 1b only 24 exhibited the complete syndrome. Males apparently are affected more often than females. Although this condition was first described by Laurence and Moon 3 seventy-five years ago, it remained for Bardet 4 and Biedl 5 to recognize (Footnotes continued on next page) the symptom complex as constituting a distinct clinical syndrome.