Abstract
The crytoptalmos syndrome is a rare disorder of which approixmately 60 cases have been reported in the world literature. None has been reported in the Turkish literature. Tt is the purpose of this paper to report another case with complet cryptophtalmos, syndactly, severe renal, gut and genital anomalies and to stress the importance of early diagnosis and of genetic couseling of the parents, about the poor prognosis and recurrence risks.
References
- 1. Duke — Elder, S5. : System of opthalmology, Vol. HI, Part 2, St. Louis, C.V. Mosby Company, 1963, s. 829.
- 2. Fraser. G.R.: Our genetical «load». A review Of some aspects of genetical varigtion. Ann. Hum. Genet., 25: 387, 1962.
- 3. Dinno, N.D. et al.: The crypophthalmos—syndactyiy syndrome. Clin. Ped. 13.: 219, 1974.
- 4. Goldhammer, Y., Smith, J.L.: Cryptophthalmos syndrome with basal encephaloceles. Amer. J. Ophthal 80: 146, 1975.
- 5. Waring, G.O,, Shields, J A.: Partial unilateral oryptophtalmos with syndaciyiy, brachycephaly and yenal anomalies. Amer J. ophthal. 79: 437, 1975.
- 6. Robison, D.H.: Pediatric Ophtalmology. Philadelphia: W.B. Saunders Company, 1975. P. 238.
- 7. Francois, .J.: Syndrome malformatif avec cryptophtalmie. Acta Genet. Med. Gem. 18: 18, 1969.
- 8. Azevedo. E.S. etal.: Cryptophthalmos in two families from Bahia, Brazil. J. Med. Genet. 10: 389, 1973.
- 9. Francois, J.: Genetic aspects of ophthalmology. Boston, Little, Brown and Company, 8: 817, 1968.
- 10. Sugar, H.S.: The cryptophthalmos syndactyly syndrome, Am, J. Ophthalmol. 66: 897, 1968.
- 11. Berki, R.: Parsiyel Fraser Sendromu. Kişisel konuşma.
- 12. Smith, D. W.: Recognizable patterns of human malformation. 2. ed. W.B. Saunders Co., philadelphia, 1976, s. 121.
Abstract
Kriptoftalmos sendromu nadir bir sendrom. olup, dünya literatüründe bugüne kadar 60 kadar olguda bildirilmiştir. Türkiye'de hiçbir olgu yayınlanmamıştır. Bu yazının amacı komplet kriptoftalmi ile birlikte sindaktili, ağır böbrek, barsak ve genital anomaliler gösteren bir olgumuzu bildirmek ve prognozu iyi olmayan bü kalıtsal hastalıkta erken tanımanın ve genetik danışmanın önemini belirtmektir.
References
- 1. Duke — Elder, S5. : System of opthalmology, Vol. HI, Part 2, St. Louis, C.V. Mosby Company, 1963, s. 829.
- 2. Fraser. G.R.: Our genetical «load». A review Of some aspects of genetical varigtion. Ann. Hum. Genet., 25: 387, 1962.
- 3. Dinno, N.D. et al.: The crypophthalmos—syndactyiy syndrome. Clin. Ped. 13.: 219, 1974.
- 4. Goldhammer, Y., Smith, J.L.: Cryptophthalmos syndrome with basal encephaloceles. Amer. J. Ophthal 80: 146, 1975.
- 5. Waring, G.O,, Shields, J A.: Partial unilateral oryptophtalmos with syndaciyiy, brachycephaly and yenal anomalies. Amer J. ophthal. 79: 437, 1975.
- 6. Robison, D.H.: Pediatric Ophtalmology. Philadelphia: W.B. Saunders Company, 1975. P. 238.
- 7. Francois, .J.: Syndrome malformatif avec cryptophtalmie. Acta Genet. Med. Gem. 18: 18, 1969.
- 8. Azevedo. E.S. etal.: Cryptophthalmos in two families from Bahia, Brazil. J. Med. Genet. 10: 389, 1973.
- 9. Francois, J.: Genetic aspects of ophthalmology. Boston, Little, Brown and Company, 8: 817, 1968.
- 10. Sugar, H.S.: The cryptophthalmos syndactyly syndrome, Am, J. Ophthalmol. 66: 897, 1968.
- 11. Berki, R.: Parsiyel Fraser Sendromu. Kişisel konuşma.
- 12. Smith, D. W.: Recognizable patterns of human malformation. 2. ed. W.B. Saunders Co., philadelphia, 1976, s. 121.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Paediatrics (Other), Ophthalmology and Optometry (Other) |
| Journal Section | Articles |
| Authors | |
| Publication Date | June 30, 1977 |
| Published in Issue | Year 1977 Volume: 30 Issue: 2 |