Fraser syndrome: Phenotypic variability and unusual findings in four Egyptian families

Fraser syndrome: Phenotypic variability and unusual findings in four Egyptian families

Background and aim: Fraser syndrome (FS) is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal malformations and urogenital defects. It may be also associated with ear, nose and skeletal abnormalities. There is a marked interfamilial clinical variab...

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Bibliographic Details
Main Authors: Ebtesam M. Abdalla, Louay H. Zayed, Noha M. Issa, Asmaa K. Amin
Format: Article
Language:English
Published: SpringerOpen 2016-04-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Fraser syndrome
Cryptophthalmos
Syndactyly
Renal agenesis
Laryngeal malformations
Urogenital defects
Egypt
Online Access:http://www.sciencedirect.com/science/article/pii/S1110863015001184

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http://www.sciencedirect.com/science/article/pii/S1110863015001184

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