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June 13, 1977

Anterior Sacral Meningocele

JAMA. 1977;237(24):2602. doi:10.1001/jama.1977.03270510024009

To the Editor.—  We have read with great interest the article by Drs Anderson and Burke (237:39, 1977). We believe their article deserves further comments regarding the genetic aspects of sacral defects with associated malformations. In addition to those familial cases cited by the authors, Cohn and Bay-Nielsen1 reported a family with six cases of the absence of the sacrum and coccyx, four of whom also had a presacral mass. The diagnosis of anterior meningocele was established by myelography in their patients whose symptoms mainly consisted of constipation and urinary incontinence (the same symptoms as those in the patients presented by Anderson and Burke). Cohn and Bay-Nielsen concluded that this condition was most likely the result of an X-linked dominant gene. In 1975, we reported another such family,2 which supported their conclusion. Furthermore, we suggested that the gene may act as a lethal in hemizygous males, since two