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EEM syndrome: report of a family and results of a ten-year follow-up.

Abstract
We report on a Brazilian kindred in which two sibs presented with the complete form of EEM (ectodermal dysplasia, ectrodactyly, and macular dystrophy) syndrome with hypotrichosis, dental anomalies, syndactyly, and retinal changes with prominent pigmentation in the posterior pole of the retina. In this family, we also observed another sib with syndactyly, as well as a first cousin with ectrodactyly. A 10-year follow-up demonstrated gradually decreasing visual acuity and progression of retinal degenerative anomalies.
AuthorsV Balarin Silva, A M Simões, A P Marques-de-Faria
JournalOphthalmic genetics (Ophthalmic Genet) Vol. 20 Issue 2 Pg. 95-9 (Jun 1999) ISSN: 1381-6810 [Print] England
PMID10420194 (Publication Type: Case Reports, Journal Article)
Topics
  • Adult
  • Ectodermal Dysplasia (genetics)
  • Fluorescein Angiography
  • Follow-Up Studies
  • Hand Deformities, Congenital (genetics)
  • Humans
  • Hypotrichosis (genetics)
  • Macular Degeneration (genetics, physiopathology)
  • Male
  • Pedigree
  • Retina (abnormalities, pathology)
  • Syndrome
  • Tooth Abnormalities (genetics)

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