| Literature DB >> 8287191 |
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 microphthalmia, central cleft-lip and palate and mental retardation. 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 dysplasia-facial cleft (EEC) syndrome.Entities:
Mesh:
Year: 1993 PMID: 8287191
Source DB: PubMed Journal: Clin Dysmorphol ISSN: 0962-8827 Impact factor: 0.816