Ankyloblepharon filiforme adnatum and imperforate anus

✍ Scribed by Aughton, David J. ;Hufnagle, Karen G.

• Publisher: John Wiley and Sons
• Year: 1993
• Tongue: English
• Weight: 73 KB
• Volume: 45
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320450327

✦ Synopsis

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 ." 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 normal.