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소두증 골형성이상 원발성 왜소증 제 II 형의 치과적 특성

Dental Characteristics of Microcephalic Osteodysplastic Primordial Dwarfism Type II

이상훈|송지수|김정욱|김영재|신터전|현홍근|박해민
대한소아치과학회 (The Korean Academy Of Pediatric Dentistry)|2021.02|대한소아치과학회지 (Journal of the Korean academy of pediatric dentistry)|제48권 제1호|pp. 50-63

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참고문헌

키워드

Vickers microhardnessPericentrinMicro-computerized tomography
주제분류치의학

초록

소두증 골형성이상 원발성 왜소증 제 II 형(MOPD II)은 원발성 왜소증의 일종으로 pericentrin 유전자의 돌연변이에 의해 유발되며상염색체 열성으로 유전된다. 이번 연구는 MOPD II의 임상적 및 방사선학적 소견과 더불어 치아의 물리화학적 특성 및 미세구조에 대한 분석을 목적으로 하였다. MOPD II 환자의 발치된 하악 제2대구치를 대상으로 하였으며 미세 전산화 단층 촬영, 주사형 전자 현미경과 에너지 분산형 분광분석법 및 비커스 미세경도 분석을 이용하여 분석하였다. MOPD II 치아는 정상 치아와 비교 시 치근 및 치수의 이형성을 보였으며크기가 작았다. 치아의 무기질 밀도는 법랑질에서는 비슷한 값을 보였으며 상아질에서는 치근 1/2 및 치근단 부위에서 MOPD II 치아가 정상 치아보다 작게 나타났다. 미세경도의 비교 시 교두 법랑질과 치근 1/2 및 치근단 부위의 상아질에서 MOPD II 치아의 미세경도가 정상 치아보다 작게 나타났다. 이 연구에서는 MOPD II의 치과적인 특징 및 치아의 물리화학적 특성에 대하여 분석함으로써, 질환의 구강 내 소견에 대한 이해도를 높이고 치과 치료 시 주의점을 확인하여 적절한 치료를 하는데 도움이 되고자 하였다.

Abstract

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is an autosomal recessive inherited disorder form of primordial dwarfism, caused by mutations in the pericentrin gene. The purpose of the study was to examine the clinical and radiological features, physicochemical properties and microstructures of the tooth affected with MOPD II. The mandibular 2nd molar was collected from the MOPD II patient. Micro-computerized tomography, scanning electron microscopy, energy dispersive spectrometry and Vickers microhardness analysis were performed on the MOPD II and the normal control. The morphology of the MOPD II tooth appeared to have malformed pulp and root and showed a small size. The mineral density measurement showed that the MOPD II tooth had similar scores in the enamel, but lower scores in the root 1/2 and apical dentin compared to the normal control. The microhardness values were smaller in the cusp enamel, root 1/2 dentin and apical dentin of the MOPD II compared to the normal control. In this study, the dental characteristics and the physicochemical properties of a tooth affected with MOPD II were analyzed to improve understanding of the oral manifestations of the disease and to assist in proper dental treatment by identifying precautions.

참고문헌 (38)

  1. Majewski F, "Studies of microcephalic primordial dwarfism I : approach to a delineation of the Seckel syndrome", Am J Med Genet, 12, pp.7~21 (1982)
  2. Majewski F, "Studies of microcephalic primordial dwarfism II : the osteodysplastic type II of primordial dwarfism", Am J Med Genet, 12, pp.23~35 (1982)
  3. Majewski F, "Studies of microcephalic primordial dwarfism III : an intrauterine dwarf with platyspondyly and anomalies of pelvis and claviclesosteodysplastic primordial dwarfism type III", Am J Med Genet, 12, pp.37~42 (1982)
  4. Sigaudy S, "Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type : Report of four cases and review of the literature", Am J Med Genet, 80, pp.16~24 (1998)
  5. Leutenegger AL, "Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits : application to Taybi-Linder syndrome", Am J Hum Genet, 79, pp.62~66 (2006)
  6. He H, "Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I", Science, 332, pp.238~240 (2011)
  7. Haan E, "Osteodysplastic primordial dwarfism : report of a further case with manifestations similar to those of types I and III", Am J Med Genet, 33, pp.224~227 (1989)
  8. Meinecke P, "Microcephalic osteodysplastic primordial dwarfism : Further evidence for identity of the so-called types I and III", Am J Med Genet, 39, pp.232~236 (1991)
  9. Rauch A, "Mutations in the pericentrin(PCNT)gene cause primordial dwarfism", Science, 319, pp.816~819 (2008)
  10. Rauch A, "The shortest of the short : pericentrin mutations and beyond", Best Pract Res Clin Endocrinol Metab, 25, pp.125~130 (2011)
  11. Terlemez A, "Majewski osteodysplastic primordial dwarfism type II : clinical findings and dental management of a child patient", J Istanb Univ Fac Dent, 49, pp.41~46 (2015)
  12. Hall JG, "Majewski osteodysplastic primordial dwarfism type II(MOPD II) : natural history and clinical findings", Am J Med Genet A, 130, pp.55~72 (2004)
  13. Karatas AF, "Hip pathology in Majewski osteodysplastic primordial dwarfism type II", J Pediatr Orthop, 34, pp.585~590 (2014)
  14. Brancati F, "Majewski osteodysplastic primordial dwarfism type II(MOPD II)complicated by stroke : clinical report and review of cerebral vascular anomalies", Am J Med Genet A, 139, pp.212~215 (2005)
  15. Bober MB, "Microcephalic osteodysplastic primordial dwarfism, type II : a clinical review", Curr Osteoporos Rep, 15, pp.61~69 (2017)
  16. Flory MR, "Identification of a human centrosomal calmodulin-binding protein that shares homology with pericentrin", Proc Natl Acad Sci U S A, 97, pp.5919~5923 (2000)
  17. Delaval B, "Pericentrin in cellular function and disease", J Cell Biol, 188, pp.181~190 (2010)
  18. Dictenberg JB, "Pericentrin and γ-tubulin form a protein complex and are organized into a novel lattice at the centrosome", J Cell Biol, 141, pp.163~174 (1998)
  19. Ghosh S, "Microcephalic osteodyplastic primordial dwarfism type II : case report with unique oral findings and a new mutation in the pericentrin gene", Oral Surg Oral Med Oral Pathol Oral Radiol, 129, pp.204~211 (2020)
  20. Kantaputra PN, "Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies : confirmation of a new syndrome", Am J Med Genet A, 130, pp.181~190 (2004)
  21. Kantaputra PN, "Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings", Am J Med Genet, 111, pp.420~428 (2002)
  22. Kantaputra P, "The smallest teeth in the world are caused by mutations in the PCNT gene", Am J Med Genet A, 155, pp.1398~1403 (2011)
  23. Abdelsalam GMH, "Microcephalic osteodysplastic primordial dwarfism type II : Additional nine patients with implications on phenotype and genotype correlation", Am J Med Genet A, 182, pp.1407~1420 (2020)
  24. Korean academy of pediatric dentistry, "Text book of pediatric dentistry", pp.93~94 (2014), Dental wisdom
  25. Waich S, "Novel PCNT variants in MOPD II with attenuated growth restriction and pachygyria", Clin Genet, 98, pp.282~287 (2020)
  26. Tezerjani MD, "A Novel PCNT frame shift variant(c. 7511delA)causing osteodysplastic primordial dwarfism of majewski Type 2(MOPD II)", Front Pediatr, 8, pp.340~ (2020)
  27. Weiss K, "Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population", Eur J Med Genet, 63, pp.103643~ (2020)
  28. Alrajhi H, "Majewski dwarfism type II : an atypical neuroradiological presentation with a novel variant in the PCNT gene", BMJ Case Rep, 12, pp.224197~ (2019)
  29. Pachajoa H, "A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II : a case report", J Med Case Rep, 8, pp.1~5 (2014)
  30. Dieks JK, "Microcephalic osteodysplastic primordial dwarfism type II(MOPD II)with multiple vascular complications misdiagnosed as Dubowitz syndrome", Eur J Pediatr, 173, pp.1253~1256 (2014)
  31. Unal S, "Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II(MOPD II) : a potential role of pericentrin in hematopoiesis", Pediatr Blood Cancer, 61, pp.302~305 (2014)
  32. Piane M, "Majewski osteodysplastic primordial dwarfism type II(MOPD II)syndrome previously diagnosed as Seckel syndrome : report of a novel mutation of the PCNT gene", Am J Med Genet A, 149, pp.2452~2456 (2009)
  33. Oliveira MAH, "Microstructure and mineral composition of dental enamel of permanent and deciduous teeth", Microsc Res Tech, 73, pp.572~577 (2010)
  34. Lindén L, "The diffusion in vitro of fluoride and chlorhexidine in the enamel of human deciduous and permanent teeth", Arch Oral Biol, 31, pp.33~37 (1986)
  35. Ronald S, "Craig’s Restorative Dental Material", pp.277~278 (2018), Mosby
  36. Poorni S, "Effect of 10%sodium ascorbate on the calcium : Phosphorus ratio of enamel bleached with 35% hydrogen peroxide : an in vitro quantitative energy-dispersive X-ray analysis", Contemp Clin Dent, 1, pp.223~226 (2010)
  37. Kodaka T, "Correlation between microhardness and mineral content in sound human enamel(short communication)", Caries Res, 26, pp.139~141 (1992)
  38. Kodaka T, "Correlation between microhardness and mineral content in sound human dentin", Showa Shigakkai Zasshi, 18, pp.199~201 (1998)

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