Cornelia de Lange Sendromu:Ektromelia’lı Bir Olgu Sunumu

Öz

Özet

Cornelia de Lange sendromu (CDL) karekteristik atipik yüz bulguları, prenatal ve postnatal gelişme geriliği ve zeka geriliği ile karakterizedir. Diğer bir adı Brachman de Lange sendromu diye geçmektedir. 1/10000-1/60000 sıklığında görülür. Polikliniğimize atipik yüz ve konjenital anomalileri olması nedeniyle başvuran 4 aylık kız hastaya CDL tanısı konuldu ve bu sendromun nadir görülmesi nedeniyle sunuldu.

Anahtar Kelimeler

• Cornelia de Lange sendromu, ektromelia, konjenital malformasyonlar

Cornelia de Lange Syndrome: A Case Report with Ectromelia

Abstract

Cornelia de Lange syndrome (CDL), also known as Brachman de Lange syndrome, is characterised by distinct facial features, prenatal and postnatal developmental delay, and mental retardation. It has an incidence between 1/10000 and 1/60000. A four-month-old female patient with dysmorphic face and congenital malformations was diagnosed with CDL, and here presented because of the rare manifestations. Key-words: Cornelia de Lange syndrome, ectromelia, congenital malformations

Keywords

• Cornelia de Lange syndrome,ectromelia,congenital malformations

References

1. O’Donnell D, Davis PJ, King NM. Management problems associated with Cornelia de Lange syndrome. Spec Care Dentist 1985; 5(4):160-3.
2. Cruz M, Bosch J (eds). Atlas de Sindromes Pediatricos. Barcelona: Expass. S.A; 1998: 76 -78.
3. Pankau R, Johanson W, Meinecke P. Brachmann de Lange syndrome in 16 ofourpatients. Monatsschr Kinderheilkd 1990; 138(2):72-76.
4. Beck B, Mikkelsen M. Chromosomes in Cornelia de Lange syndrome. Hum Genet 1981; 59(4):271-6.
5. Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, et.al. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C 2007; 145C:248-60.
6. Sataloff RT, Spiegel JR, Hawkshaw M, Epstein JM, Jackson L. Cornelia de Lange syndrome. Otoleryngologic manifestations. Arch Otolaryngol Head Neck Surg 1990; 116(9):1044-6.
7. Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, İreland M, Moeschler JB. Radiological features in Brachmann de Lange syndrome. Am J Med Genet 1993; 47(7):1006-13.
8. Gillis LA, McCallum J, Kaur M, DeScopio C, Yaeger D, Mariani A, et al. NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotypephenotype correlations. Am J Hum Genet 2004; 75(4):610-23.

9. Borck G, Redon R, Saniaville D, Rio M, Prieur M, Lyonnet S, et al. NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. J Med Genet 2004; 41(12):128.
10. Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, et al. X-linked Cornelia de Lange syndrome owing to SMCIL1 mutations. Nat Genet 2006; 38(5):528-30.
11. Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S. Pie J, et al. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet 2007; 80(3):485-94. Yazışma Adresi / Correspondence Dr.Tülay Tos e -posta: [e-mail] Geliş Tarihi: 30.07.2013 Kabul Tarihi: 12.08.2013