Abstract
Two sibs are described, the first of whom presented the classic Meckel syndrome triad of encephalocele, postaxial polydactyly, and characteristic renal cystic changes. The second sib had none of these abnormalities, but did show urethral atresia and preaxial polydactyly, two features previously described in some patients with Meckel syndrome. The two cases illustrate both the wide phenotypic spectrum of Meckel syndrome and the difficulty of attempting to define minimum diagnostic criteria for the disorder. The clinical implications arising from this problem are discussed.
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- Blankenberg T. A., Ruebner B. H., Ellis W. G., Bernstein J., Dimmick J. E. Pathology of renal and hepatic anomalies in Meckel syndrome. Am J Med Genet Suppl. 1987;3:395–410. doi: 10.1002/ajmg.1320280546. [DOI] [PubMed] [Google Scholar]
- Fitch N., Pinsky L. The Meckel syndrome with limited expression in relatives. Clin Genet. 1973;4(1):33–37. doi: 10.1111/j.1399-0004.1973.tb01119.x. [DOI] [PubMed] [Google Scholar]
- Fraser F. C., Lytwyn A. Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly". Am J Med Genet. 1981;9(1):67–73. doi: 10.1002/ajmg.1320090112. [DOI] [PubMed] [Google Scholar]
- Halal F. Distal obstructive uropathy with polydactyly: a new syndrome? Am J Med Genet. 1986 Aug;24(4):753–757. doi: 10.1002/ajmg.1320240419. [DOI] [PubMed] [Google Scholar]
- Hsia Y. E., Bratu M., Herbordt A. Genetics of the Meckel syndrome (dysencephalia splanchnocystica). Pediatrics. 1971 Aug;48(2):237–247. [PubMed] [Google Scholar]
- Lowry R. B., Hill R. H., Tischler B. Survival and spectrum of anomalies in the Meckel syndrome. Am J Med Genet. 1983 Mar;14(3):417–421. doi: 10.1002/ajmg.1320140303. [DOI] [PubMed] [Google Scholar]
- Mecke S., Passarge E. Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome. Ann Genet. 1971 Jun;14(2):97–103. [PubMed] [Google Scholar]
- Salonen R. The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet. 1984 Aug;18(4):671–689. doi: 10.1002/ajmg.1320180414. [DOI] [PubMed] [Google Scholar]
- Zerres K., Völpel M. C., Weiss H. Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis. Hum Genet. 1984;68(2):104–135. doi: 10.1007/BF00279301. [DOI] [PubMed] [Google Scholar]