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Cerebro-oculo-facio-scletal syndrome: A case report

Year 2004, Volume: 35 Issue: 4, 215 - 216, 01.05.2004

Gülşah Güven Enver Atay Abdülkadir Bozaykut Serap Ceran

Abstract

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.

Keywords

Microphthalmos Syndrome Infant Newborn Arthrogryposis Microcephaly

References

  • 1. Semerci CN, Onat N, Günce S, Demirel N
  • 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

Gülşah Güven Enver Atay Abdülkadir Bozaykut Serap Ceran

Abstract

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.

Keywords

Mikroftalmus Sendrom Süt çocuğu yenidoğan Artrogripoz Mikrosefali

References

  • 1. Semerci CN, Onat N, Günce S, Demirel N
  • 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
There are 10 citations in total.

Details

Primary Language Turkish
Journal Section Articles
Authors

Gülşah Güven This is me

Enver Atay This is me

Abdülkadir Bozaykut This is me

Serap Ceran This is me

Publication Date May 1, 2004
Published in Issue Year 2004 Volume: 35 Issue: 4

Cite

APA 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.