Ectrodactyly, Ectodermal Dysplasia, Macular Degeneration Syndrome: A Further Contribution
Küçük Resim Yok
Tarih
2006
Yazarlar
Yıldırım, M. S.
Ogun, T. C.
Kamış, U.
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Medecine Et Hygiene
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Ectrodacryly, 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.
Açıklama
Anahtar Kelimeler
Eem syndrome, Ectrodactyly
Kaynak
Genetic Counseling
WoS Q Değeri
Q4
Scopus Q Değeri
N/A
Cilt
17
Sayı
2
Künye
Yıldırım, M. S., Ogun, T. C., Kamış, U., (2006). Ectrodactyly, Ectodermal Dysplasia, Macular Degeneration Syndrome: A Further Contribution. Genetic Counseling, 17(2), 149-153.
