
Fraser Syndrome: Case Report with Review of Literature 3
cheek. There can be absence or poor development of the
eyebrows, eyelashes, gland structures and conjunctival
sac. The skin is adherent to the underlying cornea. Mi-
crophthalmia, symblepharon and abnormalities of the
anterior chamber are common.
Incomplete (atypical) cryptophthalmos refers to rudi-
mentary lid structures that are present with small con-
junctival sacs placed laterally, Small palpebral fissures,
micophthalmia and symblepharon [10].
Abortive cryptophthalmos or congenital symblepharon
described an upper lid without a well defined margin that
is adherent to the cornea. Slavotinek also suggests sym-
plepharon is part of the ocular manifestations of Fraser
syndrome [7].
We suggest utmost vigilance when clinicians are en
countered with one fetal anomaly o n antenatal ultrasou nd.
Rare multisystem disorders like Fraser syndrome should
be considered, so adequate parental counselling can be
delivered.
3. Literature Search
A MEDLINE search covering the years 1950 to the pre-
sent was conducted using the following terms: Fraser
syndrome, cryptophthalmos syndrome, and cryptoph-
thalmos. Articles cited in the reference lists of other arti-
cles were also searched.
The authors declare no conflicts of interest.
REFERENCES
[1] M. Narang, M. Kumar and D. Shah, “Fraser-Crypto-
phthalmos Syndrome with Colonic Atresia,” Indian Jour-
nal of Pediatrics, Vol. 75, No. 2, 2008, pp. 89-91.
doi:10.1007/s12098-008-0030-9
[2] W. Zehender, “Eine Missge burt mit Hautueberwachsenen
Augen oder Kryptophthalmus,” Klin Monatsbl Augen-
heilkd, Vol. 10, 1872, pp. 225-234.
doi:10.1007/s12098-008-0030-9
[3] G. R. Fraser, “Our Genetical ‘Load’: A Review of Some
Aspects of Genetic Variation,” Annals of Human Genetics,
Vol. 25, 1962, pp. 387-415.
[4] I. Smyth and P. Scambler, “The Genetics of Fraser Syn-
drome and the Blebs Mouse Mutants,” Human Molecular
Genetics, Vol. 14, No. 2, 2005, pp. R269-274.
doi:10.1093/hmg/ddi262
[5] I. T. Thomas, J. L. Frias, V. Felix, L. Sanchex de Leon, R.
A. Hernandex and M. C. Jones, “Isolated and Syndromic
Cryptophthalmos,” American Journal of Medical Genet-
ics, Vol. 25, 1986, pp. 85-98.
doi:10.1002/ajmg.1320250111
[6] E. Feldman, E. Shalev, E. Weiner, H. Cohen and H.
Zuckerman, “Microphthalmia B Prenatal Ultrasonic Di-
agnosis: A Case Report,” Prenatal Diagnosis, Vol. 5,
1985, pp. 205-207. doi:10.1002/pd.1970050307
[7] A. M. Slavotinek and C. J. Tifft, “Fraser Syndrome and
Cryptophthalmos: A Review of the Diagnostic Criteria
and Evidence of Phenotypic Modules,” Journal of Medi-
cal Genetics, Vol. 39, 2002, pp. 623-633.
doi:10.1136/jmg.39.9.623
[8] J. Gattuso, M. A. Patton and M. Baraitser, “The Clinical
Spectrum of Fraser Syndrome: Report of Three New
Cases and Review, ” Journal of Medical Genetics, Vol. 24,
1987, pp. 549-555. doi:10.1136/jmg.24.9.549
[9] J. Francois, “Syndrome Malformatif avec Cryptophthal-
mie,” Annals Genertics Medical Gemellol, Vol. 18, 1969,
pp. 18-50.
[10] D. J. Brazier, S. J. Hardman-Lea and J. R. O. Collin,
“Cryp- tophthalmos: Surgical Treatment of the Congenital
Symblepharon Variant,” British Journal of Ophthalmol-
ogy, Vol. 70, 1986, pp. 391-395.
doi:10.1136/bjo.70.5.391
Copyright © 2011 SciRes. OJOph