EEM syndrome: report of a family and results of a ten-year follow-up.
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.
Department of Ophthalmology, State University of Campinas Medical School, São Paolo, Brazil.
V
V
Balarin Silva
A M
AM
Simões
A P
AP
Marques-de-Faria
D000328:Adult; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005451:Fluorescein Angiography; D005500:Follow-Up Studies; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics; D008268:Macular Degeneration / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D010375:Pedigree; D012160:Retina / Q000002:abnormalities / Q000473:pathology; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics