Literature DB >> 2851937

Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings.

P A Boyd1, J W Keeling, R H Lindenbaum.   

Abstract

Detailed postmortem findings from 11 cases of probable Fraser (cryptophthalmos-syndactyly) syndrome are reported. Eight cases presented as neonatal deaths, one as a stillbirth, and there were 2 midtrimester fetuses. All of the cases had ocular, otic, digital, laryngeal, and renal abnormalities. Details of the pregnancies and sibship data are also reported. The possibility of prenatal diagnosis for this syndrome is discussed.

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Mesh:

Year:  1988        PMID: 2851937     DOI: 10.1002/ajmg.1320310119

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  10 in total

Review 1.  Fraser-cryptophthalmos syndrome.

Authors:  M Kabra; S Gulati; M Ghosh; P S Menon
Journal:  Indian J Pediatr       Date:  2000-10       Impact factor: 1.967

2.  Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.

Authors:  Daiji Kiyozumi; Nagisa Sugimoto; Kiyotoshi Sekiguchi
Journal:  Proc Natl Acad Sci U S A       Date:  2006-07-31       Impact factor: 11.205

3.  Case report: hypodontia and short roots in a child with Fraser syndrome.

Authors:  E J Keene; P F Day
Journal:  Eur Arch Paediatr Dent       Date:  2011-08

Review 4.  Rehabilitation of a child with partial unilateral cryptophthalmos and multiple congenital anomalies.

Authors:  H Konrad; J C Merriam; I S Jones
Journal:  Trans Am Ophthalmol Soc       Date:  1995

Review 5.  Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.

Authors:  A M Slavotinek; C J Tifft
Journal:  J Med Genet       Date:  2002-09       Impact factor: 6.318

6.  Fraser-cryptophthalmos syndrome with colonic atresia.

Authors:  Manish Narang; Manish Kumar; Dheeraj Shah
Journal:  Indian J Pediatr       Date:  2008-02       Impact factor: 1.967

7.  Basement membrane assembly of the integrin α8β1 ligand nephronectin requires Fraser syndrome-associated proteins.

Authors:  Daiji Kiyozumi; Makiko Takeichi; Itsuko Nakano; Yuya Sato; Tomohiko Fukuda; Kiyotoshi Sekiguchi
Journal:  J Cell Biol       Date:  2012-05-21       Impact factor: 10.539

8.  Fraser syndrome-oral manifestations and a dental care protocol.

Authors:  Talita Lopes de Oliveira; Giselle Rodrigues de Sant'Anna
Journal:  Case Rep Dent       Date:  2014-12-21

9.  Anesthetic management in a case of Fraser syndrome.

Authors:  Virender Kumar Mohan; Aanchal Sharma
Journal:  Saudi J Anaesth       Date:  2013-01

10.  Endoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review.

Authors:  Megan E Falls; Michael P Rabinowitz; Jacqueline R Carrasco; Mindy R Rabinowitz
Journal:  Allergy Rhinol (Providence)       Date:  2018-10-22
  10 in total

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