Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: a further contribution.
EEM syndrome is a rare condition characterised by ectodermal dysplasia, ectrodactyly and macular dystrophy. Additional abnormalities such as alopecia, cataract, absent eyebrows, and oligodontia may occur. We report two brothers and a sister born to consanguineous parents with EEM syndrome. EEM syndrome differs from other ectrodactly syndromes by the characteristic findings in the ocular fundus showing extensive retinochoroidal atrophy with diffuse retinal pigmentation and mild arteriolar attenuation at the posterior pole. In contrast to other ectrodactyly syndromes autosomal recessive inheritance is most likely.
Yildirim
M S
MS
Department of Medical Genetics, Meram Medical Faculty of Selcuk University, Konya, Turkey. drmselman@hotmail.com
Ogun
T C
TC
Kamiş
U
U
D000328:Adult; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D008268:Macular Degeneration / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D009898:Optic Disk / Q000473:pathology; D010375:Pedigree; D011859:Radiography; D013576:Syndactyly / Q000150:complications* / Q000235:genetics*; D013577:Syndrome