Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings

Yehuda Senecky, Gabrielle J. Halpern, Dov Inbar, Joseph Attias, Mordechai Shohat

Research output: Contribution to journalArticlepeer-review

Abstract

We report a brother and sister with ectodermal dysplasia, ectrodactyly, and macular dystrophy (the EEM syndrome). Both children had abnormalities of the hands and the hair, and bilateral macular degeneration. The clinical picture in both is similar to, but less severe than, that described in the previously reported cases of this rare syndrome. Even though the parents are not related, they are both of Jewish Yemenite origin, and the possibility of a common ancestor cannot be ruled out. This would suggest autosomal recessive inheritance. The clinical picture in these patients suggests either variable expression or genetic heterogeneity in the EEM syndrome and further delineates the clinical and genetic spectrum of this condition.

Original languageEnglish
Pages (from-to)195-197
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume101
Issue number3
DOIs
StatePublished - 1 Jul 2001

Keywords

  • Ectodermal dysplasia
  • Ectrodactyly
  • Macular degeneration
  • Syndactyly

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