American Journal of Medical Genet ics 45:397 (1993)

Letter to the Editor

Ankyloblepharon Filiforme Adnatum and Imperforate Anus

To the Editor:

In their informative report on ankyloblepharon filiforme adnatum (AFA), Weiss et al. [19921 observe, “ . . . the association of AFA with seemingly unrelated and diverse systemic malformations can be explained on a temporal basis. With this in mind, we can explain the AFA association with imperforate anus but not with meningocele and hydrocephalus as in a patient reported by Kazarian and Goldstein [1977].” We take the latter statement to imply that Weiss et al. [1992] postulate a nonrandom association between AFA and imperforate anus, but not between AFA and meningomyelocelel hydrocephalus, and we infer that this postulate would predict the concurrence of AFA and imperforate anus in a patient without meningomyelocelehydrocephalus. We wish to report such a case.

In 1988, we examined a term white female newborn infant with bilateral AFA, left cleft lip and palate, and imperforate anus. She was normally grown and had no other apparent anomalies; her karyotype was 46,XX. Spinal radiographs and a cranial sonogram were nor- mal. Our review of the literature for concurrences of

Received for publication April 27, 1992. Address reprint requests to David J. Aughton, M.D., Chief,

Division of Genetics, Department of Pediatrics, William Beaumont Hospital, 3535 West Thirteen Mile Road, Suite 747, Royal Oak, MI 48073-6706.

AFA and imperforate anus then documented only the case reported by Kazarian and Goldstein [19771.

Although the patient of Kazarian and Goldstein [19771 did not have cleft lip, the occurrence of cleft lip and palate in our patient is consistent with the temporal explanation offered by Weiss et al. [1992]. Our patient’s case provides further support for the proposal of Weiss et al. [19921 of a more-than-fortuitous association between AFA and imperforate anus.

REFERENCES Kazarian E, Goldstein P (1977): Ankyloblepharon filiforme adnatum

with hydrocephalus, meningomyelocele and imperforate anus. Am J Ophthalmol 84:355-357.

Weiss AH, Riscile G, Kousseff BG (1992): Ankyloblepharon filiforme adnatum. Am J Med Genet 42:369-373.

David J. Aughton Division of Genetics

Karen G. Hufnagle Division of Newborn Medicine Department of Pediatrics William Beaumont Hospital Royal Oak, MI 48073

0 1993 Wiley-Liss, Inc.