Cornelia de Lange sendromuna eşlik eden nadir bir konjenital anomali: Yarık dudak-damak
Cornelia de Lange sendromu nadir görülen multi-sistem tutulum gösteren bir sendromdur. Bu sendromun asıl özellikleri, büyüme geriliği, gelişmede gecikme, hirsutizm, yapısal üst ekstremite anomalileri, mental retardasyon ve karakteristik yüz görünümüdür. Ayrıca Cornelia de Lange tanısı konulmuş hastalarda nadirde olsa yarık damak, hiatus hernisi, pilor stenozu, özefagial ve kolonik anomaliler de gözlenebilmektedir. Olgumuz sendromun karakteristik fasiyal özelliklerini taşıyordu. Fasiyal özelliklere ek olarak yarık damak ve dudağı vardı. Bu sunumda Cornelia de Lange sendromunda yarık damak ve dudağında görülebileceğini vurgulamak ve literatürü gözden geçirmek istedik.
Anahtar Kelimeler:
Cornelia de Lange sendromu, yarık dudak, yarık damak
A concomitant rare congenital anomaly with Cornelia de Lange syndrome: Cleft lip and palate
Cornelia de Lange syndrome is a rarely seen multisystem disorder. Main clinical features of this syndrome include growth retardation, developmental delay, hirsutism, structural limb abnormalities, mental retardation and characteristic facial feature. Also, cleft palate, hiatus hernia, pyloric stenosis, esophageal anomalies, colonic anomalies can rarely be seen in patients who is diagnosed with Cornelia de Lange syndrome. Our case has characteristic facial and limb feature of syndrome. She has cleft lip and plate in addition to characteristic facial feature. In this presentation, we wanted to emphases that cleft lip and palate can be seen in Cornelia de Lange syndrome and review the literature.
Keywords:
Cornelia de Lange syndrome, cleft lip, cleft palate,
___
- Kline AD, Krantz ID, Sommer A, Kliewer M, Jackson LG, FitzPatrick DR, et al. Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A 2007 15;143:1287-96.
- Badoe E: Classical Cornelia de Lange syndrome. Ghana Med J 2006; 40:148-50.
- Kline AD, Krantz ID, Sommer A: Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet A 2007; 143:1287-96.
- Pankau R, Johanson W, Meinecke P. Brachmann de Lange syndrome in 16 of our patients. Monatsschr Kinderheilkd 1990;138:72-6.
- Kline AD, Barr M, Jackson LG. Growth manifestations in Brachman de Lange syndrome. Am J Med Genet 1993;47:1042-9.
- Caksen H, Kurtoğlu S, Cesur Y, Oztürk A. An analysis of seven infants with Brachmann-de Lange syndrome, of whom two identical twin sisters. Genet Couns 2001;12:373-7.
- Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, et al . Natural history of aging in Cornelia de Lange syndrome Am J Med Genet C 2007 15;145:248-60.
- Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB. Radiological features in Brachmann-de Lange syndrome Am J Med Genet 1993;47:1006-13.
- Mikolajewska E. Interdisciplinary therapy in cornelia de lange syndrome-review of the literature. Adv Clin Exp Med 2013;22:571-7.
- Luzzani S, Macchini F, Valade A, Milani D, Selicorni A. Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms. Am J Med Genet A 2003;119:283-7.
- Sherer I, Deardorff MA, Byrne JL, Loomes KM, Nowaczyk MJ, Jackson LG, et al. Identification of a prenatal profile of Cornelia de Lange syndrome(CdLS): a review of 53 CdLS pregnancies. Am J Med Genet A 2012;158:1848-56.
- Cassidy SB, Allanson JE. Management of Genetics Syndromes. In:Ireland Med. Cornelia de lange syndrome. Newyork: Wiley-Lıss, 2001. p85-102
- DeScipio C, Kaur M, Yaeger D, Innis JW, Spinner NB, Jackson LG, et al. Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. Am J Med Genet A 2005;137:276-82.
- Yayın Aralığı: Yılda 6 Sayı
- Başlangıç: 2012
- Yayıncı: Bolu Abant İzzet Baysal Üniversitesi Tıp Fakültesi Dekanlığı
Sayıdaki Diğer Makaleler
Mesut KOÇAK, Bahar BÜYÜKKARAGÖZ, Yasemin Kuraş CAN, Aslı Çelebi TAYFUR, Aysun Çaltık YILMAZ, Sacit GÜNBEY
Cornelia de Lange sendromuna eşlik eden nadir bir konjenital anomali: Yarık dudak-damak
Ramazan ÖZDEMİR, Ferhat ÇATAL, Kazım KUTLUTÜRK, Erdem TOPAL, Yeşim KUTLUTÜRK, Ahmet KARADAĞ
İlk prezentasyonu otalji olan beta talasemi: olgu sunumu
Talih ÖZDAŞ, Kürşat Murat ÖZCAN, Fatih ÖZDOĞAN, Gökhan CELBEK