Splithyphen;foot anomalycomma; microphthalmiacomma; clefthyphen;lip and clefthyphen;palatecomma; and mental retardation associated with a chromosome 6;13 translocation

摘要

The split-hand/split-foot anomaly is a component of several disorders which may occur sporadically or be transmitted as autosomal dominant or autosomal recessive traits. We describe a severely mentally handicapped patient with ectrodactyly of both feet in association with extreme microphathalmia, central cleft-lip and palage and mental retradation. She has an apparent de novo 46,XX,t(6;13) (q21;q12) unbalanced translocation. Either of these breakpoints may be the locus for the ectrodactyly-ectodermal dyplasia-facial cleft (EEC) syndrome.