Abstract
With a reported 1975 newborn malformation rate of 8.3%, and with isolation and inbreeding of its racially admixed population (now 13,260) for over 200 years, the Cayman Islands, B.W.I. have been the site of an intensive genetic study. To date, we have found an increased incidence in many, particularly recessive, disorders, including: sensorineural deafness (27 cases), with and without retinitis pigmentosum; congenital cataracts (14 cases); congenital ichthyosis (2 cases); and two new disorders, designated Cayman Disease (25 cases) and a new Storage Disease (6 cases). Twenty-two of the CD patients are clearly related, and all come from the town of West Bay (pop'n: 2715) as do the SD cases. All CD patients have congenital ataxia, MR, and ocular movement abnormalities. The SD (?MPS) patients are all related, and while normal at birth, develop abdominal protuberance by 18 mos., MR by 3-4 yrs., contractures thereafter, and die by 9-13 yrs. These diverse disorders appear to be the result of the combination of consanguinity, founder effects, drift, and selection.
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Bloom, A., Johnson, W., Murphy, M. et al. 513 CAYMAN DISEASE AND A NEW STORAGE DISEASE IN A WEST INDIES ISOLATE. Pediatr Res 12 (Suppl 4), 449 (1978). https://doi.org/10.1203/00006450-197804001-00518
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DOI: https://doi.org/10.1203/00006450-197804001-00518