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In 1962, he characterized the condition later known as Fraser syndrome.
Mutations in this gene is observed to cause fraser syndrome.
An earlier born infant had Fraser syndrome and the same chromosome 9 inversion.
The authors noted that the findings in the sibs were consistent with classic Fraser syndrome.
Fraser syndrome is inherited as an autosomal recessive genetic trait.
It can also be caused by the autosomal recessive congenital disorder known as Fraser syndrome.
Cryptophthalmos usually occurs on both sides and occurs in association with other multiple malformations collectively referred to as Fraser syndrome.
Serville et al. (1989) demonstrated the feasibility of ultrasonographic diagnosis of the Fraser syndrome at 18 weeks' gestation.
Fraser syndrome is named for the geneticist George R. Fraser, who first described the syndrome in 1962.
Infants and children with Fraser syndrome may also have additional abnormalities including malformations of the middle and outer ear that may result in hearing impairment.
The diagnosis of Fraser syndrome should be entertained in patients with a combination of acrofacial and urogenital malformations with or without cryptophthalmos.
Thomas et al. (1986) also emphasized the occurrence of the cryptophthalmos syndrome without cryptophthalmos and proposed a diagnostic criteria for Fraser syndrome.
Cavalcanti et al. (2007) concluded that a phenotype resembling AMS is a rare clinical expression of Fraser syndrome, with no obvious genotype/phenotype correlation.
Extracellular matrix protein FRAS1 is a protein that in humans is encoded by the FRAS1 (Fraser syndrome 1) gene.
Fraser syndrome (also known as Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome) is an autosomal recessive congenital disorder.
In 6 of 18 consanguineous families with Fraser syndrome, van Haelst et al. (2008) excluded linkage to both the FRAS1 and FREM2 genes, indicating genetic heterogeneity.
A different project has connected the cytoplasmic multi-PDZ domain protein GRIP1, an interaction partner of Eph/ephrin proteins and other molecules, with the rare but severe human congenital disease Fraser Syndrome.
One sib appeared to have a lethal form of ablepharon-macrostomia syndrome (AMS; 200110) or an intermediate phenotype between AMS and Fraser syndrome, and the other had classic Fraser syndrome.
Van Haelst et al. (2007) provided a revision of the diagnostic criteria for Fraser syndrome according to Thomas et al. (1986) through the addition of airway tract and urinary tract anomalies to the major criteria and removal of mental retardation and clefting as criteria.
Fraser syndrome (also known as Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome) is an autosomal recessive congenital disorder.
Fraser syndrome (also known as Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome) is an autosomal recessive congenital disorder.