Kabuki Make-Up Sendromu: Nadir Bir Olgu

Yıl 2019, , 227 - 229, 15.12.2019

Ali Karaman

https://doi.org/10.16948/zktipb.458645

Öz

Kabuki make-up sendromu, multipl konjenital anomaliler, tipik yüz görünümü, iskelet anomalisi, dermatoglifik
değişiklikler, postnatal büyüme geriliği ve mental
retardasyonla karakterize
nadir bir sendromdur. Kabuki make-up
sendromu, genellikle sporadik oluşan MLL2 ve KDM6A genindeki
değişime bağlı doğumsal bir bozukluktur. Kabuki
tipi yüz görünümü, gelişim geriliği, mental retardasyon, fetal parmak
yastıkçıkları olan Kabuki make-up Sendromlu bir olgu literatüre katkı
amacıyla sunuldu.

Anahtar Kelimeler

Kabuki make up, Mental retardasyon

Kaynakça

• 1. Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediat 1981; 99: 565-9. 2. Van Laarhoven PM, Neitzel LR, Quintana AM, Geiger EA, Zackai EH, Clouthier DE, Artinger KB, Ming JE, Shaikh TH. Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. Hum Mol Genet. 2015 ;1;24(15):4443-53. doi: 10.1093/hmg/ddv180. 3. Lehman N, Mazery AC, Visier A, Baumann C, Lachesnais D, Capri Y, et al. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. Clin Genet. 2017;92(3):298-305. doi: 10.1111/cge.13010.4. Liu S, Hong X, Shen C, Shi Q, Wang J, Xiong F, Qiu Z. Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations. BMC Med Genet. 2015: 21;16:26. doi: 10.1186/s12881-015-0171-4.5. Bogershausen N, Bruford E, Wollnik B. Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases. Clin Genet. 2013;83(3):212–4.6. Niikawa N, Kuroki Y, Kajii T, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet 1988; 31: 565-89. 7. Ünalp A, Giray Ö. Kabuki-Make Up Sendromu: Olgu Sunumu. DEÜ Tıp Fakültesi Dergisi 2008; 22 (1): 23-26. 8. Sertçelik M, Uğur Ç, Şahin Aközel A, Gürkan CK. A Child with Kabuki Syndrome and Autism Spectrum Disorder. Noro Psikiyatr Ars. 2016; 53(3): 280-282. doi: 10.5152/npa.2015.10099. 9. Ng SB, Bigham AW, Buckingham KJ, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nature Genet 2010; 42: 790-3. doi: 10.1038/ng.64610. Hannibal MC, Buckingham KJ, Ng SB, et al. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet 2011; 155A: 1511-6. doi: 10.1002/ajmg.a.3407411. Banka S, Veeramachaneni R, Reardon W, et al. How genetically heterogeneous is Kabuki syndrome? MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. Europ J Hum Genet 2012; 20: 381-8. doi: 10.1038/ejhg.2011.22012. Lederer D, Grisart B, Digilio MC, et al. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Med Genet 2012; 90: 119-24. doi: 10.1016/j.ajhg.2011.11.021.