Ankyloblepharon filiforme adnatum.
We treated 4 infants with ankyloblepharon filiforme adnatum (AFA), an uncommon anomaly in which the apposing eyelid margins are connected by abnormal tissue strands. One infant had AFA alone, one had Hay-Wells syndrome, characterized by ectodermal dysplasia, and the other 2 had chromosome abnormalities, trisomy 18, and complex chromosome rearrangement, with visceral malformations. Despite heterogeneity and phenotypic variability, these developmental abnormalities shared (1) involvement of tissues growing in apposition and (2) temporal overlap of their occurrence. This suggests a common defect in the mechanism(s) that regulate tissue fusion at multiple sites during development.
Weiss
A H
AH
Department of Ophthalmology, University of South Florida Medical Center, Tampa.
Riscile
G
G
Kousseff
B G
BG
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male