Phenotypic variation in Meckel syndrome

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Abstract
Four sibs are described with Meckel syndrome, an autosomal recessive disorder with multiple abnormalities. Each sib manifested only 2 of the 3 cardinal signs of Meckel syndrome, encephalocele and polycystic kidneys, lacking polydactyly. The literature is examined to assess the phenotypic variation of the condition: 57% of cases have all the 3 major abnormalities, 16% have the 2 found in this family and the remainder exhibit other variations. In 9 of 17 families where more than 1 sib is affected, manifestation between sibs is the same; however, in the other 2 families, with as many as 4 affected sibs, there is variation in expression between sibs.