ALİ KARAMAN, Hasan KAHVECİ, Selin KARAMAN, Hatip AYDIN, ARDA ÇETİNKAYA

Serebro-okülo-fasio-iskeletal sendrom: Olgu Sunumu

Giriş: Serebro-okülo-fasio-iskeletal sendrom, mikrosefali, ilerleyici nörolojik bozukluk, optik atrofi, mental gerilik, ilerleyici eklem kontraktürleri, ve büyüme geriliğini içeren çok çeşitli dismorfik özellikler ile karakterize nadir bir otozomal resesif bozukluktur.Olgu: Olgu iki haftalık erkek bebek idi, 29 yaşındaki babası ve 25 yaşındaki annesi akraba değildi. Hastamız büyüme geriliğine, mikrosefaliye, derinde olan küçük gözlere, çıkıntılı bir gaga buruna, küçük ağıza, mikropenise, eklem kontraktürlerine, kifoskolyoza, kısa bacaklara ve fırlak topuğa sahipti. Beyin magnetik rezonans grafisi serebral atrofi ve korpus kallosum hipoplazisi gösterdi. Hasta yenidoğan yoğun bakım ünitesine yatırıldı. Ancak hasta iki haftalık iken öldü.Sonuç: Burada, biz COFS sendromu özellikleri ile nadir bir hastayı rapor ettik.

Anahtar Kelimeler:

Serebro-okülo-fasio-iskeletal sendrom, mikrosefali, ilerleyici eklem kontraktürleri

Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome: Case report

Introduction: Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder characterized by a wide range of dysmorphic features, including microcephaly, progressive neurologic disorder, optic atrophy, mental retardation, progressive joint contractures and growth failure.Case: The case was two-week-old male infant whose father (29 years old) and mother (25 years old) were non-consanguineous. The present patient had growth deficiency, microcephaly, deep-set small eyes, a prominent beaked nose, micrognathia, micropenis, joint contractures, kyphoscoliosis, short legs, and rocker-bottom feet. A brain magnetic resonance graphy demonstrated cerebral atrophy and hypoplasia of the corpus callosum. The patient was hospitalized at neonatal intensive care unit. However, he died at age 2 weeks.Conclusion: Here in, we report a rare patient with the features of COFS.

Keywords:

Cerebro-oculo-facio-skeletal syndorme, microcephaly, progressive joint contractures,

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Jones KI. Unusual brain and/or neuromuscular findings. In: Jones KI. Smith’s Recognizable patterns of human malformations. Sixth Ed. Philadelphia: Elsevier Saunders; 2006, p.190-1.
Hamel BCJ, Raams A, Schuitema-Dijkstra AR, Simons P, van der Burgt I, Jaspers NGJ, Kleijer WJ. Xeroderma pigmentosum-Cockayne syndrome complex: a further case. J Med Genet 1996; 33(7): 607-10.
Sigmundsson J, Jaspers NGJ, Raams A, Grompe M. A case of xeroderma pigmentosum–Cockayne syndrome complex due to a mutation in the repair endonuclease XPG. Am J Hum Genet 1998; 63 (Suppl): A120.
Sander Barnhoorn, Lieneke M. Uittenboogaard, Dick Jaarsma, Wilbert P. Vermeij, Maria Tresini, Michael Weymaere, Hervé Menoni, Renata M. C. Brandt, Monique C. de Waard, Sander M. Botter, Altaf H. Sarker, Nicolaas G. J. Jaspers, Gijsbertus T. J. van der Horst, Priscilla K. Cooper, Jan H. J. Hoeijmakers, Ingrid van der Pluijm. Cell-Autonomous Progeroid Changes in Conditional Mouse Models for Repair Endonuclease XPG Deficiency. PLoS Genet 2014; 10(10): e1004686.
Pena SDJ, Shokeir MHK. Autosomal recessive cerebrooculo-facio-skeletal (COFS) syndrome. Clin Genet 1974; 5(4):285-93.
Pena SDJ, Evans J, Hunter AGW. COFS syndrome revisited. Birth Defects 1978; 14(6B):205-13.
Patton MA, Giannelli F, Francis AJ, Baraitser M, Harding B, Williams AJ. Early onset Cockayne’s syndrome: case reports with neuropathological and fibroblast studies. J Med Genet 1989; 26(3):154-9.
Del Bigio MR, Greenberg CR, Rorke LB, Schnur R, Mc-Donald-McGinn DM, Zackai EH. Neuropathologicalfindings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome. J Neuropathol Exp Neurol 1997; 56(10): 1147-57.
Lerman-Sagie T, Levi Y, Kidron D, Grünebaum M, Nitzan M. Brief clinical report: syndrome of osteopetrosis and muscular degeneration associated with cerebro-oculo-facioskeletal changes. Am J Med Genet 1987; 28(1):137-42.
Semerci CN, Cinbiş M, Tatlıpınar S, Kılıç İ, Yağcı B, Tepeli, E, Düzcan F. Albinoid fundus bulunan serebro-okülo-fasio-iskeletal (COFS) (Pena-Shokeir Tip II) sendromlu Bir Olgu Albinoid fundus in a case with cerebro-oculo-facio-skeletal (COFS) (Pena-Shokeir Tip II) syndrome.Türkiye Klinikleri J Pediatr 2005; 14(2):92-6.
Laugel V, Dalloz C, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Valayannopoulos V, Sarasin A, Dollfus H.Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. J Med Genet 2008; 45(9): 564-71.