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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
- Cryptophthalmos-syndactyly syndrome (OMIM 219000)
IMAGING
Ultrasonographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
- Bouaoud J et al: Fraser syndrome: review of the literature illustrated by a historical adult case. Int J Oral Maxillofac Surg. ePub, 2020
- Boussion S et al: Fraser syndrome without cryptophthalmos: Two cases. Eur J Med Genet. 103839, 2020
- Midro AT et al: Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene. Am J Med Genet A. 182(4):773-9, 2020
- Tessier A et al: Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases. Prenat Diagn. 36(13):1270-5, 2016
- Ozemri Sag S et al: A novel mutation in the FRAS1 gene in a patient with Fraser syndrome. Genet Couns. 26(1):21-7, 2015
- Kohl S et al: Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol. 25(9):1917-22, 2014
- Barisic I et al: Fraser syndrome: epidemiological study in a European population. Am J Med Genet A. 161A(5):1012-8, 2013
- Hoefele J et al: Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1. Gene. 520(2):194-7, 2013
- Mesens T et al: Congenital high airway obstruction syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings. Genet Couns. 24(4):367-71, 2013
- Vogel MJ et al: Mutations in GRIP1 cause Fraser syndrome. J Med Genet. 49(5):303-6, 2012
- Yesilkaya Y et al: MRI findings of intracranial malformations in a case with Fraser syndrome. Clin Dysmorphol. 21(4):234-6, 2012
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
- Cryptophthalmos-syndactyly syndrome (OMIM 219000)
IMAGING
Ultrasonographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
- Bouaoud J et al: Fraser syndrome: review of the literature illustrated by a historical adult case. Int J Oral Maxillofac Surg. ePub, 2020
- Boussion S et al: Fraser syndrome without cryptophthalmos: Two cases. Eur J Med Genet. 103839, 2020
- Midro AT et al: Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene. Am J Med Genet A. 182(4):773-9, 2020
- Tessier A et al: Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases. Prenat Diagn. 36(13):1270-5, 2016
- Ozemri Sag S et al: A novel mutation in the FRAS1 gene in a patient with Fraser syndrome. Genet Couns. 26(1):21-7, 2015
- Kohl S et al: Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol. 25(9):1917-22, 2014
- Barisic I et al: Fraser syndrome: epidemiological study in a European population. Am J Med Genet A. 161A(5):1012-8, 2013
- Hoefele J et al: Expanding the mutation spectrum for Fraser syndrome: identification of a novel heterozygous deletion in FRAS1. Gene. 520(2):194-7, 2013
- Mesens T et al: Congenital high airway obstruction syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings. Genet Couns. 24(4):367-71, 2013
- Vogel MJ et al: Mutations in GRIP1 cause Fraser syndrome. J Med Genet. 49(5):303-6, 2012
- Yesilkaya Y et al: MRI findings of intracranial malformations in a case with Fraser syndrome. Clin Dysmorphol. 21(4):234-6, 2012
