Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation
- 1 July 1993
- journal article
- case report
- Published by Wolters Kluwer Health in Clinical Dysmorphology
- Vol. 2 (3) , 274???277-7
- https://doi.org/10.1097/00019605-199307000-00016
Abstract
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.Keywords
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