Fraser syndrome: Phenotypic variability and unusual findings in four Egyptian families
Egyptian Journal of Medical Human Genetics [The]. 2016; 17 (2): 233-238
in English
| 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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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Pedigree
/
Phenotype
/
Urogenital Abnormalities
/
Syndactyly
Type of study:
Case report
Limits:
Adult
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Infant, Newborn
Language:
English
Journal:
Egypt. J. Med. Hum. Genet.
Year:
2016
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