Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria

@article{vanHaelst2007FraserSA,
  title={Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria},
  author={Mieke M van Haelst and Peter J. Scambler and Raoul C.M. Hennekam},
  journal={American Journal of Medical Genetics Part A},
  year={2007},
  volume={143A}
}
Fraser syndrome is an autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, syndactyly, and urogenital defects. We studied the clinical features in 59 affected individuals from 40 families (25 consanguineous), and compared our findings to data from previous reviews. We found a higher frequency of abnormalities of the skull, larynx, umbilicus, urinary tract, and anus in our series of patients, and mental retardation and cleft lip with or without cleft palate were… 
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References

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Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes
TLDR
Patterns of anomalies found in patients diagnosed with Fraser syndrome are similar to those found in other syndromes and associations without cryptophthalmos, suggesting that common modifier genes may explain some of the phenotypic variation in Fraser syndrome.
The clinical spectrum of the Fraser syndrome: report of three new cases and review.
TLDR
Renal and pulmonary malformations were associated with early death, and a combination of ultrasound and fetoscopy should provide the best approach when attempting prenatal diagnosis.
Isolated and syndromic cryptophthalmos.
TLDR
Cryptophthalmos syndrome should be considered in the differential diagnosis of cases with multiple congenital malformations, especially when they are associated with renal agenesis, even in the absence of cryptophthalMos.
ENT abnormalities associated with Fraser syndrome: case report and literature review.
TLDR
The ear, nose and throat abnormalities in a two-year-old child with Fraser syndrome are described in detail.
[Fraser syndrome].
  • T. Nagai
  • Medicine
    Ryoikibetsu shokogun shirizu
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Autosomal-recessive inherited congenital disorder of cryptophthalmos, ear and facial abnormalities, cutaneous syndactyly and genital malformations. Classical Fraser Syndrome is caused by mutation of
Fraser and Ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1
TLDR
It is concluded that a phenotype resembling AMS is a rare clinical expression of FS with no obvious genotype–phenotype correlation, and the molecular basis of “true” AMS which has been reported as a sporadic disorder in all cases but one, and so far with no relation to FS, is probably different and still needs to be further investigated.
ENT manifestations of Fraser syndrome
TLDR
Four cases of Fraser Syndrome that have been treated at the Hospital for Sick Children in the last ten years are presented, and the various ENT anomalies characteristic of this syndrome are described.
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs
TLDR
This work mapped my to Frem2, a gene related to Fras1 and Frem1, and showed that a Frem2 gene-trap mutation was allelic to my, suggesting that calcium binding in the CALXβ-cadherin motif is important for normal functioning of FREM2.
Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome
TLDR
Two cases of Fraser syndrome (cryptophthalmos syndrome) in a non‐consanguineous couple, with variable expression in echographic, clinical and autopsy findings are reported on.
Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings.
TLDR
Detailed postmortem findings from 11 cases of probable Fraser (cryptophthalmos-syndactyly) syndrome are reported and the possibility of prenatal diagnosis for this syndrome is discussed.
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