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A Meckel‐like syndrome?
Author(s) -
Fried K.,
Mundel G.,
Reif A.,
Bukovsky J.
Publication year - 1974
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1974.tb01658.x
Subject(s) - phenocopy , etiology , pathological , medicine , pediatrics , sign (mathematics) , signs and symptoms , pathology , surgery , biology , genetics , phenotype , mathematical analysis , mathematics , gene
The problem of the major clinical pathological signs required for the diagnosis of the Meckel syndrome is presented. A case showing only one of the three major signs of the syndrome is described. It is concluded that at present some cases showing only one major sign and a combination of minor signs could be interpreted in two alternative ways: 1) That they are cases of the real syndrome with unusually few manifestations. 2) That they are phenocopies or are examples of a Meckel‐like syndrome without an etiological relation to the classical syndrome. Follow‐up of the families and the presence or absence of typical cases of Meckel syndrome among siblings may help in deciding between the above possibilities.