Greig Sefalopolisindaktili Sendromu: Bir Olgu Sunumu

Yıl 2011, Cilt: 9 Sayı: 2, 47 - 49, 01.09.2011

Ali Karaman Hasan Kahveci Fuat Laloğlu

Öz

Girifl: Greig sefalopolisindaktili sendromu GCPS , çoklu konjenital anomalili bir pleiotropik sendromdur. Olgu Sunumu: Hasta yüksek alın, frontal şişlik, makrosefali, belirgin hipertelorizm, aşağı eğik palpebral fissürler ve geniş bir burun köküne sahipti. Ayakları bilateral kutanöz sindaktilili polidaktili gösterdi. Tartışma: GCPS otozomal dominant genetik modelli nadir bir durumdur. Primer bulguları, hipertelorizm, frontal şişliği olan makrosefali ve polisindaktiliyi içerir. Burada, GCPS’nin tipik klinik bulguları ile 1 haftalık kız bir olgu sunuldu.

Anahtar Kelimeler

Greig sefalopolisindaktili sendromu, makrosefali, polisindaktili

Greig Cephalopolysyndactyly Syndrome: A Case Report

Öz

Introduction: The Greig cephalopolysyndactyly syndrome GCPS is a pleiotropic, multiple congenital anomaly syndrome. Case Report: The patient had high forehead, frontal bossing, macrocephaly, apparent hypertelorism, down-slanting palpebral fissures and a broad nasal root.The feet showed bilateral polydactyly with cutaneous syndactyly of the fifth digits. Conclusion: GCPS is a rare condition with an autosomal dominant mode of inheritance. The primary findings include hypertelorism, macrocephaly with frontalbossing, and polysyndactyly. Presented here is a case of a 1 week old female withtypical clinical manifestations of GCPS

Anahtar Kelimeler

Greig cephalopolysyndactyly syndrome, macrocephaly, polysyndactyly

Kaynakça

• 1. KroIsel PM, Petek E, Wagner K. Phenotype of five patients with Greig syndrome and microdeletion of 7p13. Am J Med Genet 2001;102:243-9.
• 2. Johnston JJ, OlIvos-Glander I, KIlloran C, Elson E, Turner JT, Peters KF, et al. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: Robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 2005;76:609-22.
• 3. Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, et al. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat 2010;31:1142-54.
• 4. Greig DM. Oxycephaly. Edinb Med J 1926;33:189-218.
• 5. Johnston JJ, OlIvos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, et al. Clinical and molecular delineation of the Greig ceph- alopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am J Med Genet A 2003;123:236-42.
• 6. Jones KL. Smith's Recognizable Patterns of Human Malformation. 6th ed. Philadelphia, WB Saunders Company, 2006.p.486-7.
• 7. Mendoza-Londono R, Kashork CD, Shaffer LG, Krance R, Plon SE. Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes. Genes Chromosomes Cancer 2005;42:82-6.
• 8. GorlIn RJ, Cohen MM Jr, Hennekam RCM. Acrocallosal syndrome. In Syndromes of the Head and Neck. Gorlin RJ, Cohen MM Jr, Hennekam RCM (ed). Oxford, Oxford University Pres, 2001.p.996-8.
• 9. BIesecker LG. Polydactyly: how many disorders and how many genes? Am J Med Genet 2002;112:279-83.
• 10. Everman D. The polydactylies. In Human Malformations and Related Anomalies. Stevenson R.E., Hall J.G. (ed). Oxford, Oxford University Pres, 2006.p.937-53.
• 11. BIesecker LG. What you can learn from one gene: GLI3. J Med Genet 2006;43:465-9.
• 12. Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, et al. Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. Am J Med Genet A 2003;120:49-58.
• 13. Elson E, Perveen R, DonnaI D, Wall S, Black GC. De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J Med Genet 2002;39:804-6.
• 14. Teebi AS. New autosomal dominant syndrome resembling craniofrontonasal dysplasia. Am J Med Genet 1987;28:581-91.
• 15. Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, et al. RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet 2007;80:1162-70.
• 16. Gorlin RJ, Cohen MM Jr, Hennekam RCM. Gorlin (nevoid basal cell carcinoma) syndrome. In Syndromes of the Head and Neck. Gorlin RJ, Cohen MM Jr, Hennekam RCM (ed). Oxford, Oxford University Pres, 2001.p.444-53.
• 17. Boduro¤lu K, Balci S, Topçu M. A Turkish family with Greig cephalopolysyndactyly syndrome. Turk J Pediatr 1999;41:259-65