Literature DB >> 11105430

Fraser-cryptophthalmos syndrome.

M Kabra1, S Gulati, M Ghosh, P S Menon.   

Abstract

Fraser or Cryptophthalmos syndrome is a variable syndrome to the extent that cryptophthalmos might not be present in all cases. However, the main features are a "hidden eye", other craniofacial abnormalities, renal abnormalities, syndactyly and abnormal genitalia. It may be classified as isolated cryptophthalmos or cryptophthalmos sequence and cryptophthalmos syndrome. The cryptophthalmos syndrome has an autosomal recessive mode of inheritance. Isolated cryptophthalmos has been reported as an autosomal dominant trait. Prenatal diagnosis is possible using ultrasonography and fetoscopy. We report three cases of cryptophthalmos. One with renal agenesis had cryptophthalmos syndrome and the other two had isolated cryptophthalmos or cryptophthalmos sequence.

Entities:  

Mesh:

Year:  2000        PMID: 11105430     DOI: 10.1007/bf02723939

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  9 in total

1.  Cryptophthalmos.

Authors:  S Kanhere; V Phadke; A Mathew; S F Irani
Journal:  Indian J Pediatr       Date:  1999 Sep-Oct       Impact factor: 1.967

2.  Diagnostic echographic findings in cryptophthalmos syndrome (Fraser syndrome).

Authors:  J P Fryns; D van Schoubroeck; K Vandenberghe; H Nagels; P Klerckx
Journal:  Prenat Diagn       Date:  1997-06       Impact factor: 3.050

Review 3.  Isolated and syndromic cryptophthalmos.

Authors:  I T Thomas; J L Frias; V Felix; L Sanchez de Leon; R A Hernandez; M C Jones
Journal:  Am J Med Genet       Date:  1986-09

Review 4.  The clinical spectrum of the Fraser syndrome: report of three new cases and review.

Authors:  J Gattuso; M A Patton; M Baraitser
Journal:  J Med Genet       Date:  1987-09       Impact factor: 6.318

5.  The cryptophthalmos-syndactyly syndrome.

Authors:  H S Sugar
Journal:  Am J Ophthalmol       Date:  1968-11       Impact factor: 5.258

6.  Syndromic cryptophthalmos.

Authors:  M G Bialer; W G Wilson
Journal:  Am J Med Genet       Date:  1988-07

7.  Prenatal diagnosis of Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks.

Authors:  G M Schauer; L K Dunn; L Godmilow; R C Eagle; A S Knisely
Journal:  Am J Med Genet       Date:  1990-12

8.  Mechanism of vitamin A action. Gene expression in retinol-deficient rats.

Authors:  M Omori; F Chytil
Journal:  J Biol Chem       Date:  1982-12-10       Impact factor: 5.157

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

Authors:  P A Boyd; J W Keeling; R H Lindenbaum
Journal:  Am J Med Genet       Date:  1988-09
  9 in total
  3 in total

1.  A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.

Authors:  Qian Yu; Bingying Lin; Shangqian Xie; Song Gao; Wei Li; Yizhi Liu; Hongwei Wang; Danping Huang; Zhi Xie
Journal:  Hum Mol Genet       Date:  2018-07-01       Impact factor: 6.150

Review 2.  Renal development in the fetus and premature infant.

Authors:  Stacy Rosenblum; Abhijeet Pal; Kimberly Reidy
Journal:  Semin Fetal Neonatal Med       Date:  2017-02-01       Impact factor: 3.926

Review 3.  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

  3 in total

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