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.

Tissue limited mosaicism in a patient with tetrasomy 9p.

Cytogenetic analysis of an abnormal newborn girl showed an extra chromosome with the characteristics of an isodicentric 9p chromosome [idic (9)(pter----q12----pter)] in 98% of peripheral lymphocyte metaphases examined. This cytogenetic interpretation was substantiated by quantitative measurement of erythrocyte galactose-1-P-uridyltransferase (GALT) activity, which is consistent with the expression of 4 normal GALT genes. Cytogenetic results from skin fibroblasts showed mosaicism with only 11% of the metaphases having the extra chromosome.