Thirty-two patients with a form of Laurence-Moon-Biedl syndrome are reported from the Departments of Medicine, Ophthalmology, Radiology, and Community Medicine, Memorial University, St. John's, Newfoundland, Canada. The patients were located through the registry of the Canadian National Institute of the Blind, as a result of their attendance at an Ocular Genetics Clinic. Fourteen were male and 18 female with an age range of 12-54 (mean, 33 years). The estimated prevalence was 1 per 17500. The patients were distributed all over Newfoundland but were primarily in families of English West Country origin. Consanguinity was documented or presumed in six families. Mental retardation was present in 41% of patients. All patients had severe retinal dystrophy but only two had typical retinitis pigmentosa. Polydactyly occurred in 58%, 96% were overweight, and 48% were grossly obese. The majority were below the 50th percentile for height. Other abnormalities included small testes and genitalia, menstrual irregularities, low serum estrogen levels, diabetes mellitus, and renal abnormalities. [1]

COMMENT. The patients were classified as Bardet-Biedl syndrome rather than Laurence-Moon-Biedl syndrome. The authors conclude that the characteristic features of Bardet-Biedl syndrome are 1) severe retinal dystrophy, 2) dysmorphic extremities, 3) obesity, 4) renal abnormalities, and 5) hypogenitalism in male patients only. Mental retardation, Polydactyly, and hypogonadism in female patients are not necessarily present.

The earliest reference to this condition appears in II Samuel 21:20, in which there is mention of “a man of great stature, that had on every hand six fingers, and on every foot six toes, four and twenty in number; and he also was born to the giant.” (See [2]). This man was probably related to Goliath. Although the Hebrew word describing the stature is generally accepted to signify tall, the Aramaic translation uses a word “mashach”, which means oily or fat. Pliny, in his Natural History, also refers to a baby with six fingers and six toes. The cardinal signs of the syndrome described by Laurence and Moon (Ophthal Rev 1866; 2: 32), in order of their frequency, were obesity, retinitis pigmentosa, mental deficiency, genital dystrophy, familial incidence, and Polydactyly. Spastic paraparesis mentioned in the present article was not included and was not present in my own case report. The early retinal changes do not usually conform with the classical picture of retinitis pigmentosa but these may appear in the later stages of the illness. Early retinal abnormalities are nonpigmented degeneration with loss of central vision, minimal peripheral pigmentation of the fundus, optic atrophy and fine retinal vessels [3]. The need to separate patients in the present paper as examples of Bardet-Biedl syndrome seems questionable. Renal abnormalities have been reported in the Laurence-Moon syndrome and spastic paraparesis is not usually a dominant feature of that syndrome. As in most syndromes, individual expressions are variable and one or more of the cardinal features is often absent.