Browse > Article
http://dx.doi.org/10.5933/JKAPD.2021.48.1.50

Dental Characteristics of Microcephalic Osteodysplastic Primordial Dwarfism Type II  

Park, Haemin (Department of Pediatric Dentistry, School of Dentistry, Seoul National University)
Song, Ji-Soo (Department of Pediatric Dentistry, School of Dentistry, Seoul National University)
Shin, Teo Jeon (Department of Pediatric Dentistry, School of Dentistry, Seoul National University)
Hyun, Hong-Keun (Department of Pediatric Dentistry, School of Dentistry, Seoul National University)
Kim, Young-Jae (Department of Pediatric Dentistry, School of Dentistry, Seoul National University)
Lee, Sang-Hoon (Department of Pediatric Dentistry, School of Dentistry, Seoul National University)
Kim, Jung-Wook (Department of Pediatric Dentistry, School of Dentistry, Seoul National University)
Publication Information
Journal of the korean academy of Pediatric Dentistry / v.48, no.1, 2021 , pp. 50-63 More about this Journal
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.
Keywords
Microcephalic osteodysplastic primordial dwarfism type II; Pericentrin; Micro-computerized tomography; Vickers microhardness;
Citations & Related Records
연도 인용수 순위
  • Reference
1 Leutenegger AL, Labalme A, Edery P, et al. : Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome. Am J Hum Genet, 79:62-66, 2006.   DOI
2 Majewski F, Goecke T : Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. Am J Med Genet, 12:7-21, 1982.   DOI
3 He H, Liyanarachchi S, Chapelle A, et al. : Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science, 332:238-240, 2011.   DOI
4 Rauch A, Thiel CT, Reis A, et al. : Mutations in the pericentrin (PCNT ) gene cause primordial dwarfism. Science, 319:816-819, 2008.   DOI
5 Terlemez A, Altunsoy M, Celebi H : Majewski osteodysplastic primordial dwarfism type II: clinical findings and dental management of a child patient. J Istanb Univ Fac Dent, 49: 41-46, 2015.   DOI
6 Karatas AF, Bober MB, Mackenzie WG, et al. : Hip pathology in Majewski osteodysplastic primordial dwarfism type II. J Pediatr Orthop, 34:585-590, 2014.   DOI
7 Hall JG, Flora C, Tanaka KI, et al. : Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet A, 130:55-72, 2004.
8 Meinecke P, Schaefer E, Wiedemann HR : Microcephalic osteodysplastic primordial dwarfism: Further evidence for identity of the so-called types I and III. Am J Med Genet, 39:232-236, 1991.   DOI
9 Abdelsalam GMH, Sayed ISM, Abdelhamid MS, et al. : Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation. Am J Med Genet A, 182:1407-1420, 2020.   DOI
10 Haan E, Furness M, Vigneswaren R, et al. : Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. Am J Med Genet, 33:224-227, 1989.   DOI
11 Rauch A : The shortest of the short: pericentrin mutations and beyond. Best Pract Res Clin Endocrinol Metab, 25:125-130, 2011.   DOI
12 Pachajoa H, Botero FR, Isaza C : 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, 8:1-5, 2014.   DOI
13 Unal S, Alanay Y, Gumruk F, et al. : 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: 302-305, 2014.   DOI
14 Piane M, Monica MD, Scarano G, et al. : 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, 149:2452-2456, 2009.
15 Poorni S, Kumar RA, Ramachandran S, et al. : 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, 1:223-226, 2010.   DOI
16 Dictenberg JB, Zimmerman W, Doxsey SJ, et al. : Pericentrin and γ-tubulin form a protein complex and are organized into a novel lattice at the centrosome. J Cell Biol, 141:163-174, 1998.   DOI
17 Ghosh S, Garg M, Chandra M, et al. : 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, 129:204-211, 2020.
18 Oliveira MAH, Torres CP, Borsatto MC, et al. : Microstructure and mineral composition of dental enamel of permanent and deciduous teeth. Microsc Res Tech, 73:572-577, 2010.   DOI
19 Linden L, Bjorkman S, Hattab F : The diffusion in vitro of fluoride and chlorhexidine in the enamel of human deciduous and permanent teeth. Arch Oral Biol, 31:33-37, 1986.   DOI
20 Ronald S, Jack F, John P : Craig's Restorative Dental Material, 14th ed. Mosby, 277-278, 2018.
21 Kodaka T, Debari K, Yamada M, Kuroiwa M : Correlation between microhardness and mineral content in sound human enamel (short communication). Caries Res, 26:139-141, 1992.   DOI
22 Kodaka T, Debari K, Yamada M : Correlation between microhardness and mineral content in sound human dentin. Showa Shigakkai Zasshi, 18:199-201, 1998.
23 Tezerjani MD, Mehrjardi MYV, Hozhabri H, Rahmanian M : A Novel PCNT frame shift variant (c.7511delA) causing osteodysplastic primordial dwarfism of majewski Type 2 (MOPD II). Front Pediatr, 8:340, 2020.   DOI
24 Kantaputra PN : Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings. Am J Med Genet, 111:420-428, 2002.   DOI
25 Kantaputra P, Tanpaiboon P, Thiel CT, et al . : The smallest teeth in the world are caused by mutations in the PCNT gene. Am J Med Genet A, 155:1398-1403, 2011.   DOI
26 Korean academy of pediatric dentistry : Text book of pediatric dentistry, 5th ed. Dental wisdom, Seoul, 93-94, 2014.
27 Weiss K, Ekhilevitch N, Muenke M et al. : Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population. Eur J Med Genet, 63:103643, 2020.   DOI
28 Delaval B, Doxsey SJ : Pericentrin in cellular function and disease.J Cell Biol, 188:181-190, 2010.   DOI
29 Waich S, Janecke AR, Vodopiutz J, et al. : Novel PCNT variants in MOPD II with attenuated growth restriction and pachygyria. Clin Genet, 98:282-287, 2020.   DOI
30 Kantaputra PN, Tanpaiboon P, Unachak K, Praphanphoj V : Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome. Am J Med Genet A, 130:181-190, 2004.
31 Brancati F, Castori M, Mingarelli R, Dallapiccola B : Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies. Am J Med Genet A, 139:212-215, 2005.
32 Bober MB, Jackson AP : Microcephalic osteodysplastic primordial dwarfism, type II: a clinical review. Curr Osteoporos Rep, 15:61-69, 2017.   DOI
33 Flory MR, Moser MJ, Monnat RJ, Davis TN : Identification of a human centrosomal calmodulin-binding protein that shares homology with pericentrin. Proc Natl Acad Sci U S A, 97:5919-5923, 2000.   DOI
34 Majewski F, Ranke M, Schinzel A : Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. Am J Med Genet, 12:23-35, 1982.   DOI
35 Majewski F, Stoeckenius M, Kemperdick H : 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, 12:37-42, 1982.   DOI
36 Sigaudy S, Toutain A, Philip N, et al. : Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: Report of four cases and review of the literature. Am J Med Genet, 80:16-24, 1998.   DOI
37 Alrajhi H, Alallah J, Hakami F, et al. : Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene. BMJ Case Rep, 12:224197, 2019.
38 Dieks JK, Baumer A, Sigler M, et al. : Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome. Eur J Pediatr, 173:1253-1256, 2014.   DOI