Öz
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.
Anahtar Kelimeler
Microphthalmos Syndrome Infant Newborn Arthrogryposis Microcephaly
Kaynakça
- 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
Öz
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.
Anahtar Kelimeler
Mikroftalmus Sendrom Süt çocuğu yenidoğan Artrogripoz Mikrosefali
Kaynakça
- 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
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Makaleler |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Mayıs 2004 |
| Yayımlandığı Sayı | Yıl 2004 Cilt: 35 Sayı: 4 |