Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1987 Sep;24(9):549–555. doi: 10.1136/jmg.24.9.549

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

J Gattuso 1, M A Patton 1, M Baraitser 1
PMCID: PMC1050267  PMID: 3118036

Abstract

Three new cases of the Fraser syndrome are presented and 68 published cases are reviewed. A quantitative estimate of the frequency of clinical manifestations is given. Craniofacial abnormalities were reported in all patients, cryptophthalmos in 93%, and syndactyly in 54%. Abnormalities of the ears, nose, genitalia, and urinary system were reported in 44%, 37%, 49%, and 37% of cases respectively. This variability should be taken into account when attempting prenatal diagnosis; a combination of ultrasound and fetoscopy should provide the best approach. Of the reported cases 26% were stillborn and 19% died in the first year of life. Renal and pulmonary malformations were associated with early death.

Full text

PDF
551

Images in this article

549Image
on p.549
550Image
on p.550
550Image
on p.550
550Image
on p.550
551Image
on p.551

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Azevêdo E. S., Biondi J., Ramalho L. M. Cryptophthalmos in two families from Bahia, Brazil. J Med Genet. 1973 Dec;10(4):389–392. doi: 10.1136/jmg.10.4.389. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Barry D. R., Shortland-Webb W. R. A case of the cryptophthalmos syndrome. Ophthalmologica. 1980;180(4):234–240. doi: 10.1159/000308980. [DOI] [PubMed] [Google Scholar]
  3. Brazier D. J., Hardman-Lea S. J., Collin J. R. Cryptophthalmos: surgical treatment of the congenital symblepharon variant. Br J Ophthalmol. 1986 May;70(5):391–395. doi: 10.1136/bjo.70.5.391. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Burn J., Marwood R. P. Fraser syndrome presenting as bilateral renal agenesis in three sibs. J Med Genet. 1982 Oct;19(5):360–361. doi: 10.1136/jmg.19.5.360. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Codère F., Brownstein S., Chen M. F. Cryptophthalmos syndrome with bilateral renal agenesis. Am J Ophthalmol. 1981 Jun;91(6):737–742. doi: 10.1016/0002-9394(81)90006-4. [DOI] [PubMed] [Google Scholar]
  6. DEJEAN, VIALLEFONT, BOUDET, PAYCHA A propos d'un cas de cryptophtalmie d'un côté, avec microphtalmie de l'autre. Bull Soc Ophtalmol Fr. 1954 Oct;6:603–606. [PubMed] [Google Scholar]
  7. Dinno N. D., Edwards W. C., Weiskopf B. The cryptophthalmos-syndactyly syndrome. Description, manner of inheritance, and notes on the eye lesions. Clin Pediatr (Phila) 1974 Mar;13(3):219–passim. doi: 10.1177/000992287401300303. [DOI] [PubMed] [Google Scholar]
  8. Emberger J. M., Taib J., Caderas de Kerleau J., Pincemin D. Etude anatomique d'une observation de cryptophtalmie familiale. J Genet Hum. 1976 Nov;24 (Suppl):23–29. [PubMed] [Google Scholar]
  9. Feldman E., Shalev E., Weiner E., Cohen H., Zuckerman H. Microphthalmia--prenatal ultrasonic diagnosis: a case report. Prenat Diagn. 1985 May-Jun;5(3):205–207. doi: 10.1002/pd.1970050307. [DOI] [PubMed] [Google Scholar]
  10. François J. Syndrome malformatif avec cryptophtalmie. Acta Genet Med Gemellol (Roma) 1969 Jan;18(1):18–50. doi: 10.1017/s1120962300012294. [DOI] [PubMed] [Google Scholar]
  11. Gupta S. P., Saxena R. C. CRYPTOPHTHALMOS. Br J Ophthalmol. 1962 Oct;46(10):629–632. doi: 10.1136/bjo.46.10.629. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Ide C. H., Wollschlaeger P. B. Multiple congenital abnormalities associated with cryptophthalmia. Arch Ophthalmol. 1969 May;81(5):638–644. doi: 10.1001/archopht.1969.00990010640007. [DOI] [PubMed] [Google Scholar]
  13. Lurie I. W., Cherstvoy E. D. Renal agenesis as a diagnostic feature of the cryptophthalmos-syndactyly syndrome. Clin Genet. 1984 Jun;25(6):528–532. doi: 10.1111/j.1399-0004.1984.tb00496.x. [DOI] [PubMed] [Google Scholar]
  14. Reinecke R. D. Cryptophthalmos. Arch Ophthalmol. 1971 Mar;85(3):376–377. doi: 10.1001/archopht.1971.00990050378027. [DOI] [PubMed] [Google Scholar]
  15. STEIDL P. [A case of cryptophthalmia]. Union Med Can. 1962 Feb;91:159–161. [PubMed] [Google Scholar]
  16. Sugar H. S. The cryptophthalmos-syndactyly syndrome. Am J Ophthalmol. 1968 Nov;66(5):897–899. doi: 10.1016/0002-9394(68)92808-0. [DOI] [PubMed] [Google Scholar]
  17. Varnek L. Cryptophthalmos, dyscephaly, syndactyly and renal aplasia. Report of a case. Acta Ophthalmol (Copenh) 1978 Apr;56(2):302–313. doi: 10.1111/j.1755-3768.1978.tb01356.x. [DOI] [PubMed] [Google Scholar]
  18. Walbaum R., Delahousse G., Decocq J., Verbert A., Crepin G. Un cas de syndrome cryptophtalmie-syndactylie. J Genet Hum. 1976 Nov;24 (Suppl):31–34. [PubMed] [Google Scholar]
  19. Waring G. O., Shields J. A. Partial unilateral cryptophthalmos with syndactyly, brachycephaly, and renal anomalies. Am J Ophthalmol. 1975 Mar;79(3):437–440. doi: 10.1016/0002-9394(75)90618-2. [DOI] [PubMed] [Google Scholar]
  20. ZINN S. Cryptophthalmia. Am J Ophthalmol. 1955 Aug;40(2):219–223. [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES