I agree with Dr. Balci that the patients described in their article cannot be considered affected by “classic Meckel syndrome.” Nevertheless, I believe that three elements must be considered when evaluating patients without a definitive diagnosis: (1) the possible great variability in clinical expression of genetic conditions; (2) the high rate of overlapping features, particularly those seen in syndromes with polydactyly; (3) in this specific case, pancreatic and renal cysts are effectively major signs of Meckel syndrome.
Thus, the denomination “Meckel-like” syndrome for these patients, in the absence of an alternative diagnosis, could be, in my opinion, appropriate.
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Digilio, M. Reply to letter from Sevim Balci:. Genet Med 9, 137 (2007). https://doi.org/10.1097/GIM.0b013e3180307830
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DOI: https://doi.org/10.1097/GIM.0b013e3180307830