WEILL-MARCHESANI TİP II SENDROMLU BİR ÇOCUK HASTANIN ORAL VE DENTAL BULGULARI: 3 YILLIK TAKİPLİ OLGU SUNUMU
Öz
Weill-Marchesani sendromu (WMS, OMIM# 227600) genetik olarak tanımlanmış, nadir görülen bir sistemik bağ dokusu hastalığıdır. Sendrom, ilgili genlerdeki mutasyonlara göre dört tipe ayrılmaktadır. Literatürde WMS'li sınırlı sayıda birey göz önüne alındığında, ADAMTS10, ADAMTS17, FBN1 veya LTBP2 için genotip-fenotip korelasyonu tanımlanmamıştır. Erişilebilir literatürde, sınırlı çalışmaların hiçbiri WMS'nin ağız ve diş anomalilerine odaklanmamıştır. Bu vaka raporu, WMS2'li 63 aylık bir kadın hastanın ağız ve diş bulgularını tanımlamaktadır.
Anahtar Kelimeler
Dental anomaliler FBN-1 gen mutasyonu Weill-Marchesani Sendromu
Kaynakça
- 1. Weill G. Ectopie du cristallin et malformations générales. Ann Ocul 1932:169.
- 2. Marchesani O. Brachydaktylie und angeborene kugellines als systemer-krankung. Klin Monatsbl Augenheilkd 1939;103:392-406.
- 3. Gorlin RJ, Cohen Jr, MM, Hennekam RC. Syndromes of the head and neck. Oxford university press, 2001.
- 4. Marzin P, Cormier-Daire V, Tsilou E. Weill-Marchesani Syndrome. GeneReviews®, 2020.
- 5. Yang GY, Huang, X, Chen BJ, Xu ZP. Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance. Chin Med J 2021;134(11):1359-1361.
- 6. Faivre L, Dollfus H, Lyonnet S, Alembik Y, Mégarbané A, Samples J, et al. Clinical homogeneity and genetic heterogeneity in Weill- Marchesani syndrome. Am J Med Genet A 2003;123A:204–207.
- 7. Verloes A, Hermia JP, Galand A, Koulischer L, Dodinval P. Glaucoma‐lens ectopia‐microspherophakia‐stiffness‐shortness (GEMSS) syndrome: A dominant disease with manifestations of Weill‐Marchesani syndromes. Am J Med Genet 1992;44.1:48-51.
- 8. Karabiyik L. Airway management of a patient with Weill-Marchesani syndrome. J Clin Anesth 2003;15:214-6.
- 9. Karoulias SZ, Beyens A, Balic Z, et al. A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix. Matrix Biol 2020;88:1-18.
- 10. Pulse CL, Moses MS, Greenman D, Rosenberg SN, Zegarelli DJ. Cherubism: case reports and literature review. Dent Today 2001;20:100-3.
- 11. Judge DP, Dietz HC. Marfan’s syndrome. Lancet 2005;366:1965-1976.
- 12. Huang XF, Chaı Y. Molecular regulatory mechanism of tooth root development. Int J Oral Sci 2012;4(4):177-181.
- 13. De Coster JA, Martens LCM, De Paepe A. Oral manifestations of patients with Marfan syndrome: a case-control study. Oral Surg Oral Med Oral Pathol Oral Radiol 2002;93(5):564-572.
- 14. Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 2003:33:407-411.
- 15. Severin E, Moldoveanu GG, Moldoveanu A. Failure of tooth development: prevalence, genetic causes and clinical features, 2021.
- 16. Decaup PH, Garot E, Rouas P.
ORAL AND DENTAL FINDINGS OF A CHILD WITH WEILL-MARCHESANI SYNDROME TYPE II: A CASE REPORT WITH 3-YEAR FOLLOW-UP
Öz
Weill-Marchesani syndrome (WMS, OMIM# 227600) is a genetically determined, rare systemic connective tissue disorder. The syndrome is divided into four types according to mutations in related genes. Given the limited number of individuals with WMS in the literature, no genotype-phenotype correlations for ADAMTS10, ADAMTS17, FBN1, or LTBP2 have been identified. In the accessible literature, none of the limited studies were focused on the oral and dental anomalies of WMS. The present case report describes oral and dental findings of a 63 months old female patients with WMS2.
Anahtar Kelimeler
Dental Anomalies FNB-1 gene mutation Weill-Marchesani Syndrome
Kaynakça
- 1. Weill G. Ectopie du cristallin et malformations générales. Ann Ocul 1932:169.
- 2. Marchesani O. Brachydaktylie und angeborene kugellines als systemer-krankung. Klin Monatsbl Augenheilkd 1939;103:392-406.
- 3. Gorlin RJ, Cohen Jr, MM, Hennekam RC. Syndromes of the head and neck. Oxford university press, 2001.
- 4. Marzin P, Cormier-Daire V, Tsilou E. Weill-Marchesani Syndrome. GeneReviews®, 2020.
- 5. Yang GY, Huang, X, Chen BJ, Xu ZP. Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance. Chin Med J 2021;134(11):1359-1361.
- 6. Faivre L, Dollfus H, Lyonnet S, Alembik Y, Mégarbané A, Samples J, et al. Clinical homogeneity and genetic heterogeneity in Weill- Marchesani syndrome. Am J Med Genet A 2003;123A:204–207.
- 7. Verloes A, Hermia JP, Galand A, Koulischer L, Dodinval P. Glaucoma‐lens ectopia‐microspherophakia‐stiffness‐shortness (GEMSS) syndrome: A dominant disease with manifestations of Weill‐Marchesani syndromes. Am J Med Genet 1992;44.1:48-51.
- 8. Karabiyik L. Airway management of a patient with Weill-Marchesani syndrome. J Clin Anesth 2003;15:214-6.
- 9. Karoulias SZ, Beyens A, Balic Z, et al. A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix. Matrix Biol 2020;88:1-18.
- 10. Pulse CL, Moses MS, Greenman D, Rosenberg SN, Zegarelli DJ. Cherubism: case reports and literature review. Dent Today 2001;20:100-3.
- 11. Judge DP, Dietz HC. Marfan’s syndrome. Lancet 2005;366:1965-1976.
- 12. Huang XF, Chaı Y. Molecular regulatory mechanism of tooth root development. Int J Oral Sci 2012;4(4):177-181.
- 13. De Coster JA, Martens LCM, De Paepe A. Oral manifestations of patients with Marfan syndrome: a case-control study. Oral Surg Oral Med Oral Pathol Oral Radiol 2002;93(5):564-572.
- 14. Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 2003:33:407-411.
- 15. Severin E, Moldoveanu GG, Moldoveanu A. Failure of tooth development: prevalence, genetic causes and clinical features, 2021.
- 16. Decaup PH, Garot E, Rouas P.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Diş Hekimliği |
| Bölüm | Olgu Sunumu |
| Yazarlar | |
| Yayımlanma Tarihi | 15 Haziran 2023 |
| Gönderilme Tarihi | 10 Ocak 2023 |
| Yayımlandığı Sayı | Yıl 2023 Cilt: 10 Sayı: 4 |
Selcuk Dental Journal Creative Commons Atıf-GayriTicari 4.0 Uluslararası Lisansı (CC BY NC) ile lisanslanmıştır.