The Meckel syndrome in the Hutterites.
At least three cases of the Meckel syndrome have been identified in the Hutterites. Two of these were sibs and were studied during life; the other, a close relative, was diagnosed retrospectively by a review of hospital records. All parents were consanguineous. The phenotype ranged in severity from the association of occipital meningocele, cystic kidneys, postaxial polydactyly, and microphthalmia to a milder expression consisting of cystic kidneys, ocular defects apparent only on funduscopic examination, and a brain abnormality demonstrated by computer tomography. Survival ranged from 5 to 13 months. In one patient, the renal lesion was manifested as a tubular rather than a glomerular defect, and was probably not the primary cause of death.
D002170:Canada; D003241:Consanguinity; D005787:Gene Frequency; D006801:Humans; D007231:Infant, Newborn; D052177:Kidney Diseases, Cystic / Q000235:genetics*; D017880:Limb Deformities, Congenital; D008297:Male; D008588:Meningocele / Q000235:genetics*; D008850:Microphthalmos / Q000235:genetics*; D012425:Russia (Pre-1917) / Q000208:ethnology; D013577:Syndrome