A second case of microcephaly, microphthalmia, ectrodactyly (split-foot) and prognathism (MMEP)

Clin Dysmorphol. 1996 Jan;5(1):77-9. doi: 10.1097/00019605-199601000-00012.

Abstract

In 1993, Viljoen and Smart described a woman with ectrodactyly of the feet, midline facial cleft, microphthalmia, and mental retardation in association with a de novo chromosome 6;13 translocation. We present a man with similar features who had a normal karyotype.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Foot Deformities, Congenital / pathology*
  • Humans
  • Male
  • Microcephaly / pathology*
  • Microphthalmos / pathology*
  • Prognathism / pathology*
  • Syndrome