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Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: a further contribution.
Genet Couns. 2006; 17(2):149-53.GC

Abstract

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.

Authors+Show Affiliations

Department of Medical Genetics, Meram Medical Faculty of Selcuk University, Konya, Turkey. drmselman@hotmail.comNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16970031

Citation

Yildirim, M S., et al. "Ectrodactyly, Ectodermal Dysplasia, Macular Degeneration Syndrome: a Further Contribution." Genetic Counseling (Geneva, Switzerland), vol. 17, no. 2, 2006, pp. 149-53.
Yildirim MS, Ogun TC, Kamiş U. Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: a further contribution. Genet Couns. 2006;17(2):149-53.
Yildirim, M. S., Ogun, T. C., & Kamiş, U. (2006). Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: a further contribution. Genetic Counseling (Geneva, Switzerland), 17(2), 149-53.
Yildirim MS, Ogun TC, Kamiş U. Ectrodactyly, Ectodermal Dysplasia, Macular Degeneration Syndrome: a Further Contribution. Genet Couns. 2006;17(2):149-53. PubMed PMID: 16970031.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: a further contribution. AU - Yildirim,M S, AU - Ogun,T C, AU - Kamiş,U, PY - 2006/9/15/pubmed PY - 2006/12/29/medline PY - 2006/9/15/entrez SP - 149 EP - 53 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 17 IS - 2 N2 - 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. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/16970031/Ectrodactyly_ectodermal_dysplasia_macular_degeneration_syndrome:_a_further_contribution_ L2 - http://www.diseaseinfosearch.org/result/2437 DB - PRIME DP - Unbound Medicine ER -