Cerebro-oculo-facio-skeletal(COFS) Syndrome is a genetic syndrome characterized by neurogenic arthrogryposis, microcephaly and microphtalmia. Inheritance is autosomal recessive. Here we report a newborn who has physical anomalies associated with COFS. We aimed to discuss this rare disorder under the light of literature.
Cerebro-oculo-facio-skeletal syndrome: report of
two cases from Turkey with postmortem findings
Turk J Pediatr. 2002;44:269-73
2. Jones KL. Smith's recognizable Patterns of Human
Malformation, 5 th ed. Philadephia: WB Saunders Co 1997: 170-71
3. Linna SL, Finni K, Simila S, Kouvalainen K
Intracranial calcifications in cerebro-oculo-facio-
skeletal (COFS) syndrome. Pediatr Radiol. 1982;12:28-30
4. Grizzard WS, ODonnellJJ, Carey JC. The cerebro-oculo-facio-skeletal syndrome. Am J Ophthalmol.1980 ;89:293-8
5. Lerman-Sagie T, Levi Y. Syndrome of osteopetrozis
and musculer degeneration associated with cerebro-oculo-facio-skeletal changes. Am J Med Genet. 1987;28:137-42
6. Del Bigio MR, Greenberg CR, Rorke LB, Schnur
R. Neuropathological findings ineight children with cerebro-oculo-facio-skeletal (COFS) syndrome. J Neuropathol Exp Neurol. 1997 ;56:1147-57
7. Gershoni-Baruch R, Ludatscher RM, Lichtig C,
Sujov P. Cerebro-oculo-facio-skeletal (COFS)
syndrome; further delineation. Am J Med Genet.1991 ;41: 74-7
8. FishJH, ScholtzAW, HusslB, KreczyA, Schrott-FischerA. Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration. Otol Neurotol, 2001 ;22:170-7
Bir olgu sunumu: Cerebro-oculo-facio-scletal sendrom
Year 2004,
Volume: 35 Issue: 4, 215 - 216, 01.05.2004
Cerebro-Oculo-Fasio-Skeletal Sendrom nörojenik. artrogripozis,mikrosefalı ve mikroftalmi ile karakterize olan genetik bir sendromdur. Kalıtım şekli otozomal resesiftir. Bu yazıda bu sendrom ile uyumlu fizik anomalileri olan yenidoğan sunulmuştur. Bu çok nadir görülen hastalığı literatür ışığı altında tartışmayı amaçladık.
Cerebro-oculo-facio-skeletal syndrome: report of
two cases from Turkey with postmortem findings
Turk J Pediatr. 2002;44:269-73
2. Jones KL. Smith's recognizable Patterns of Human
Malformation, 5 th ed. Philadephia: WB Saunders Co 1997: 170-71
3. Linna SL, Finni K, Simila S, Kouvalainen K
Intracranial calcifications in cerebro-oculo-facio-
skeletal (COFS) syndrome. Pediatr Radiol. 1982;12:28-30
4. Grizzard WS, ODonnellJJ, Carey JC. The cerebro-oculo-facio-skeletal syndrome. Am J Ophthalmol.1980 ;89:293-8
5. Lerman-Sagie T, Levi Y. Syndrome of osteopetrozis
and musculer degeneration associated with cerebro-oculo-facio-skeletal changes. Am J Med Genet. 1987;28:137-42
6. Del Bigio MR, Greenberg CR, Rorke LB, Schnur
R. Neuropathological findings ineight children with cerebro-oculo-facio-skeletal (COFS) syndrome. J Neuropathol Exp Neurol. 1997 ;56:1147-57
7. Gershoni-Baruch R, Ludatscher RM, Lichtig C,
Sujov P. Cerebro-oculo-facio-skeletal (COFS)
syndrome; further delineation. Am J Med Genet.1991 ;41: 74-7
8. FishJH, ScholtzAW, HusslB, KreczyA, Schrott-FischerA. Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration. Otol Neurotol, 2001 ;22:170-7
Güven, G., Atay, E., Bozaykut, A., Ceran, S. (2004). Bir olgu sunumu: Cerebro-oculo-facio-scletal sendrom. Zeynep Kamil Tıp Bülteni, 35(4), 215-216. https://doi.org/10.16948/zktb.54827
AMA
Güven G, Atay E, Bozaykut A, Ceran S. Bir olgu sunumu: Cerebro-oculo-facio-scletal sendrom. Zeynep Kamil Tıp Bülteni. May 2004;35(4):215-216. doi:10.16948/zktb.54827
Chicago
Güven, Gülşah, Enver Atay, Abdülkadir Bozaykut, and Serap Ceran. “Bir Olgu Sunumu: Cerebro-Oculo-Facio-Scletal Sendrom”. Zeynep Kamil Tıp Bülteni 35, no. 4 (May 2004): 215-16. https://doi.org/10.16948/zktb.54827.
EndNote
Güven G, Atay E, Bozaykut A, Ceran S (May 1, 2004) Bir olgu sunumu: Cerebro-oculo-facio-scletal sendrom. Zeynep Kamil Tıp Bülteni 35 4 215–216.
IEEE
G. Güven, E. Atay, A. Bozaykut, and S. Ceran, “Bir olgu sunumu: Cerebro-oculo-facio-scletal sendrom”, Zeynep Kamil Tıp Bülteni, vol. 35, no. 4, pp. 215–216, 2004, doi: 10.16948/zktb.54827.
ISNAD
Güven, Gülşah et al. “Bir Olgu Sunumu: Cerebro-Oculo-Facio-Scletal Sendrom”. Zeynep Kamil Tıp Bülteni 35/4 (May 2004), 215-216. https://doi.org/10.16948/zktb.54827.
JAMA
Güven G, Atay E, Bozaykut A, Ceran S. Bir olgu sunumu: Cerebro-oculo-facio-scletal sendrom. Zeynep Kamil Tıp Bülteni. 2004;35:215–216.
MLA
Güven, Gülşah et al. “Bir Olgu Sunumu: Cerebro-Oculo-Facio-Scletal Sendrom”. Zeynep Kamil Tıp Bülteni, vol. 35, no. 4, 2004, pp. 215-6, doi:10.16948/zktb.54827.
Vancouver
Güven G, Atay E, Bozaykut A, Ceran S. Bir olgu sunumu: Cerebro-oculo-facio-scletal sendrom. Zeynep Kamil Tıp Bülteni. 2004;35(4):215-6.