Fraser syndrome: Phenotypic variability and unusual findings in four Egyptian families
Egyptian Journal of Medical Human Genetics [The]. 2016; 17 (2): 233-238
em Inglês
| IMEMR
| ID: emr-180244
ABSTRACT
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 variability. However, there is strong phenotypic similarity and concordance of the degree of severity of the disease within a family. Our aim was to report new cases of FS from the Egyptian population
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Linhagem
/
Fenótipo
/
Anormalidades Urogenitais
/
Sindactilia
Tipo de estudo:
Relato de Casos
Limite:
Adulto
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
/
Recém-Nascido
Idioma:
Inglês
Revista:
Egypt. J. Med. Hum. Genet.
Ano de publicação:
2016
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