Down Sendromu: Babacan Köyü Orta Erişkin Kadın Birey Örneği

Öz

İnsanda genetik düzensizlik sonucu, fazladan bir kromozomun bulunmasına Down Sendromu (DS) denir. DS, morfolojik bozukluklara, birçok hastalığın ortaya çıkmasına neden olan ve dolayısıyla insanın yaşam kalitesini düşüren genetik bir farklılıktır. DS'ye ilişkin klinik bulgunun büyük bir kısmı, iskelet kalıntılarından değerlendirilemeyen yumuşak doku özellikleridir. DS ile ilişkili fenotipler değişkendir. DS bireylerinin kafatasında, ince kafatası kemikleri, metopik sütur açıklığı, oksipital düzlük, brakisefallik, frontal, maxillar ve sphenoid sinüslerin az gelişmesi ya da yokluğu, düşük orta yüz yüksekliği, düz yüz profili, basık ve küçük burun, oklüzyal problemler ve periyodontal hastalıklar, eksik diş, taurodontizm gibi bulgular gözlenmektedir.  Çalışma materyalimizi, Van ili, Babacan kırsalında yapılan kazılardan elde edilen 20-30 yaşındaki yetişkin bir kadına ait kafatası oluşturmaktadır. Araştırmamızda bireyin kafatası ve yüz iskeletinden osteometrik ölçümler alınmış ve bilgisayarlı tomografi (BT) taramasıyla sinüs varlığı ve gelişimi hakkında bilgi sağlanmıştır. İncelenen bireyin kafatasının morfolojik özellikleri DS ile uyumluluk göstermektedir. Çalışmamızın amacı, DS'li iskelet materyalleri üzerine günümüze kadar yapılan çalışmalardan da yararlanarak, Babacan kırsalı yetişkin kadın bireyde gözlenen DS bulgularını değerlendirmek ve literatüre katkıda bulunmaktadır.

Anahtar Kelimeler

• Down Sendromu,İskelet,Erken Demir Çağı

Down Syndrome: A Middle Adult Female Individual Sample from Babacan Village

Öz

The presence of an additional chromosome in the human as a result of genetic disorder is called Down Syndrome (DS). DS is a genetic difference that leads to the occurrence of many diseases and thus decreases the quality of life. The majority of clinical manifestations of DS are soft tissue features that cannot be assessed in skeletal remains. Phenotypes associated with DS vary. In the skull of DS individuals, symptoms such as thin skull bones, metopic suture, occipital flatness, brachycephalic structure,  little or no developed frontal, maxillar and sphenoid sinuses, low mid facial height, flat facial profile, flattened and small nose, occlusal problems, periodontal diseases, missing teeth, and taurodontism are observed. Our study material is the skull of a 20-30 year old adult female obtained from the excavations in Babacan countryside around Van province. In our study, osteometric measurements were taken from the individual's skull and facial skeleton, and computed tomography (CT) scans were used to provide information about sinus presence and development. The morphological characteristics of the skull of the examined individual show compatibility with DS. The aim of our study is to evaluate the DS findings observed in the adult female individual in Babacan countryside and contribute to the literature by using the previous studies on DS skeletal materials.

Anahtar Kelimeler

• Down Syndrome,Skeleton,Early Iron Age

Kaynakça

1. Ajmani, M. L., Mittal, R. K. ve Jain, S. P. (1983). Incidence of the Metopic Suture in Adult Nigerian Skulls. Journal of Anatomy, 137 (1), 177-183. Ajrish, G. S. ve Thenmozhi, M. S. (2015). Study of Occurrence of Metopic Suture in Adult South Indian Skulls. Journal of Pharmaceutical Sciences and Research, 7 (10), 904-906 Al-Shawaf, R. ve Al-Faleh, W. (2011). Craniofacial Characteristics in Saudi Down’s Syndrome. King Saud University Journal of Dental Sciences, 2 (1-2), 17-22. Balzeau, A. ve Charlier, P. (2016). What Do Cranial Bones of LB1 Tell Us About Homo Floresiensis? Journal of Human Evolution, 93, 12-24. Benda, C. E. (1941). Observations on the Malformation of the Head in Mongoloid Deficiency. The Journal of Pediatrics, 19 (6), 800-816 Breathnach, A. S. (1958). Frazer's Anatomy of the Human Skeleton. London: J. & A. Churchill Ltd. Brothwell, D.R. (1959). A Possible Case of Mongolism in a Saxon Population. Annals Human Genetics, 24 (2), 141-50. Castilho, S. M. A. (2006). Metopism in Adults from Southern Brazil. International Journal Morphology, 24 (1), 61-66. Chen, H. (2016). Down Syndrome Differential Diagnosis. emedicine.medscape.com/article 943216-overview Czarnetzki, A., Blin, N. ve Pusch, C. M. (2003). Down's Syndrome in Ancient Europe. The Lancet. 362 (9388), 1000 Dayal, R. S. ve Agarwal, L. P. (1958). Observations on Mongolism. Indian Journal of Child Health. 7, 960-967. Del Sol, M., Binvignat, O., Bolini, P. D. A. ve Prates, J. C. (1989). Metopismo No Individuo Brasileiro, Revista Paulista de Medicina, 107(2), 105-107. Desai, S. S. ve Flanagan, T. J. (1999). Orthodontic Considerations in Individuals with Down Syndrome: A Case Report. The Angle Orthodontist, 69 (1), 85-88 Down, J. L. H. (1866) Observations on an Ethnic Classification of Idiots. Nature Publishing Group (Ed.) Clinical Lecture Reports (s. 695-697). London. Dwight, T. (1890). The Closure Of The Cranial Sutures As A Sign Of Age. Boston Medical Surgical Journal, 122, 389-392. Gorlin, R. J., Cohen, M. M. ve Hennekam, R. C. M. (2001). Syndromes of the Head and Neck. New York: Oxford University Press. Henneberg, M., Eckhardt, R. B., Chavanaves, S. ve Hsü, K. J. (2014). Evolved Developmental Homeostasis Disturbed in LB1 from Flores, Indonesia, Denotes Down Syndrome and not Diagnostic Traits of the Invalid Species Homo Floresiensis. Proceedings of the National Academy of Sciences of the United States of America, 111 (33), 11967-11972. Kisling, E. (1979). Cranial Morphology in Down's Syndrome: A Comparative Roentgen Cephalometric Study in Adult Males. Yayınlanmamış doktora tezi, Royal Danish Dental College, Copenhagen. Lestrel, P. E. ve Roche, A. F. (1979). The Cranial Thickness in Down's Syndrome: Fourier Analysis. Proceedings 1st. International Congress of Auxology, 1, 108–118. Obendorf, P. J., Oxnard, C. E. ve Kefford, B. J. (2008). Are the Small Human-Like Fossils Found on Flores Human Endemic Cretins? Proceedings of the Royal Society B, 275 (1640), 1287-1296. Pujari, P., Naveen, N., RaviShankar, G. ve Roopa, C. R. (2015). A Study of Metopic Suture in Adult Human Skull. Journal of Evolution of Medical and Dental Sciences. 4 (32), 5452-5454. Quintanilla, J., Biedma, B., Rodríguez, M., Mora, M., Cunqueiro, M. ve Pazos, M. (2002). Cephalometrics in Children with Down's Syndrome. Pediatric Radiology, 32 (9), 635-643. Richtsmeier, J. T., Zumwalt A., Carlson, E. J., Epstein, C. J. ve Reeves, R. H. (2002). Craniofacial phenotypes in segmentally trisomic mouse models for Down syndrome. American Journal of Medical Genetics, 107(4), 317-324. Roche, A. F. (1966). The Cranium in Mongolism. Acta Neurologica Scandinavica, 42, 62-78. Roche, A. F., Seward, F. S. ve Sunderland, S. (1961). Non Metrical Observations on Cranial Roentgenograms in Mongolism. The American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine, 85, 659-662. Romanes, G. J. (1964). Cunningham Text Book of Anatomy, London: Oxford University Press. Roper, R. J. ve Reeves, R. H. (2006). Understanding the Basis for Down Syndrome Phenotypes. PLoS Genetics, 2(3), 50. Shapira, J., Chaushu S. ve Becker, A. (2000). Prevalence of Tooth Transposition, Third Molar Agenesis, and Maxillary Canine Impaction in Individuals with Down Syndrome. The Angle Orthodontist, 70(4), 290-296 Spitzer, R. ve Quilliam, R. L. (1958). Observations on Congenital Anomalies in Teeth and Skull in two Groups of Mental Defectives (A Comparative Study). The British Journal of Radiology, 31(371), 596-604. Spitzer, R., Rabinowitch, J.Y. ve Wybar, K. C. (1961). A Study of the Abnormalities of the Skull, Teeth and Lenses in Mongolism. Canadian Medical Association Journal, 84(11), 567-572. Spoor, F., Leakey, M. G., Gathogo, P. N., Brown, F. H., Anton, S. C. ve McDougall, I. (2007). Implications of New Early Homo Fossils from Ileret, East of Lake Turkana, Kenya. Nature, 448 (7154), 688-691. Suri, S., Tompson, B. D. ve Atenafu, E. (2011). Prevalence and Patterns of Permanent Tooth Agenesis in Down Syndrome and Their Association with Craniofacial Morphology. The Angle Orthodontist, 81(2), 260-269. Ubelaker, D. H (1989). Human Skeletal Remains. Excavation, Analysis, Interpretation. Washington D.C.: Taraxacum. Walker, P.L., Cook, D.C., Ward, R., Braunstein, E. ve Davee. M. (1991). A Down Syndrome-like Congenital Disorder in a Prehistoric California Indian. American. Journal of Physical Anthropology, 34 (12), 179 Workshop of European Anthropologists (WEA) (1980). Recommendations for Age and Sex Diagnoses of Skeletons. Journal of Human Evolution, 9 (7), 518-549. Yılmaz, H. (2015). The Skeletal Remains from Babacan Village Early Iron Age (Muradiye, Van, Turkey). International Journal of Human Sciences, 12(1), 1394-1396.