MAJEWSKI OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II: CLINICAL FINDINGS AND DENTAL MANAGEMENT OF A CHILD PATIENT

Year 2015, Volume: 49 Issue: 1, 41 - 46, 25.03.2015

Arslan Terlemez Mustafa Altunsoy Hakkı Çelebi

https://doi.org/10.17096/jiufd.73283

Abstract

Majewski osteodysplastic primordial dwarfism type II (MOPD II) is an unusual autosomal recessive inherited form of primordial dwarfism, which is characterized by a small head diameter at birth, but which also progresses to severe microcephaly, progressive bony dysplasia, and characteristic facies and personality. This report presents a case of a five-year-old girl with MOPD II syndrome. The patient was referred to our clinic with the complaint of severe tooth pain at the left mandibular primary molar teeth. Clinical examination revealed that most of the primary teeth had been decayed and all primary teeth were hypoplastic. Patient’s history revealed delayed development in the primary dentition and radiographic examination showed rootless primary molar teeth and short-rooted incisors. The treatment was not possible due to the lack of root of the left mandibular primary molars; so the teeth were extracted. Thorough and timely dental evaluation is crucial for the prevention of dental problems and the maintenance of oral health in patients with MOPD II syndrome is of utmost importance.

 

 

Keywords

Majewski; Osteodysplastic; Primordial Dwarfism Type II

Majewski Osteodisplastik Primordial Cücelik Tip II: Bir Çocuk Hastanın Klinik Bulguları ve Dental Rehabilitasyonu

Abstract

Mikrosefalik osteodisplastik primordial cücelik tip II (MOPCII), küçük kafa ölçüleri ile doğum ve ilerleyen ciddi mikrosefali, ilerleyen kemik displazisi ve tipik yüz ve kişilik farklılıkları ile karakterize, otozomal çekinik olarak aktarılan ve nadir görülen bir cücelik tipidir. Bu olgu sunumunda, MOPC II sendromlu beş yaşında bir kız bildirilmektedir. Hasta, kliniğimize sol mandibular molar süt dişlerde şiddetli diş ağrısı ile başvurdu. Klinik incelemede birçok süt dişinin çürük olduğu ve dişlerin hipoplastik olduğu görüldü. Sol alt süt molar dişler köksüz olduğu için tedavi edilmesi mümkün değildi ve bu dişler çekildi. MOPC II sendromlu hastaların dişlerinin doğru ve zamanında değerlendirilmesi, bu hastalarda dişsel problemlerin önlenebilmesi ve ağız sağlığının sürdürülebilmesi için büyük önem taşımaktadır

Keywords

Majewski, Osteodisplastik, Primordial cücelik Tip II

References

• 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 2005;139(3):212-215.
• Kantaputra P, Tanpaiboon P, Porntaveetus T, Ohazama A, Sharpe P, Rauch A, Hussadaloy A, Thiel CT. The smallest teeth in the world are caused by mutations in the PCNT gene. Am J Med Genet A 2011;155A(6):1398-1403.
• Meinecke P, Passarge E. Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. J Med Genet 1991;28(11):795-800.
• Majewski F, Goecke TO. Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. Am J Med Genet 1998;80(1):25-31.
• Delaval B, Doxsey SJ. Pericentrin in cellular function and disease. J Cell Biol 2010;188(2):181-190.
• Majewski F, Ranke M, Schinzel A. Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. Am J Med Genet 1982;12(1):23-35.
• Hall JG, Flora C, Scott CI, Jr., Pauli RM, Tanaka KI. Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet A 2004;130A(1):55-72.
• 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 2004;130A(2):181-190.
• Kannu P, Kelly P, Aftimos S. Microcephalic osteodysplastic primordial dwarfism type II: a child with cafe au lait lesions, cutis marmorata, and moyamoya disease. Am J Med Genet A 2004;128A(1):98-100.
• Young ID, Barrow M, Hall CM. Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease: another patient. Am J Med Genet A 2004;127A(2):218-220.
• Ozawa H, Takayama C, Nishida A, Nagai T, Nishimura G, Higurashi M. Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II. Brain Dev 2005;27(3):237-240.
• Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 2008;319(5864):816-819.
• Bober MB, Khan N, Kaplan J, Lewis K, Feinstein JA, Scott CI, Jr., et al. Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype. Am J Med Genet A 2010;152A(4):960-965.
• Rauch A. The shortest of the short: pericentrin mutations and beyond. Best Pract Res Clin Endocrinol Metab 2011;25(1):125-130.
• Kantaputra PN. Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings. Am J Med Genet 2002;111(4):420-428.