SOS1 ASSOCIATED NOONAN SYNDROME PRESENTING WITH SUPERNUMARY TEETH; A CASE REPORT

Year 2015, Supplement 12, 56 - 60, 24.11.2015

Gülser Kılınıç , Özge Aksel Müjdat Çetin Hüseyin Onay Özlem Bozkaya

https://doi.org/10.17567/dfd.61402

Abstract

Noonan syndrome (NS) is a common autosomal dominant disorder which is characterized by chest deformation, congenital heart disease, short stature and distinctive facial features. Supernumerary teeth are rarely seen in connection with NS, however severe gingivitis could be seen in NS patients more frequently. In this report, a 12-year-old boy with Noonan syndrome whose oral examination revealed an anterior open bite, supernumerary teeth, severe anterior gingival enlargement, dental crowding associated with diestema, tapered incisors, narrow high-arched palate and prominent rugae was presented. Mutation analysis of the BRAF, PTPN11 and SOS1 genes from peripheral blood cells showed that our patient has p.R552K mutation in exon 11 of the SOS1 gene. Dental problems like supernumary teeth might be seen in NS patients. It is necessary to collaborate with pediatric dentist during the follow-up and treatments of these cases

Keywords

Noonan syndrome, supernumerary teeth, SOS1, gingivitis

SOS1 GENİ İZOLE EDİLEN NOONAN SENDROMLU OLGUDA ARTI DİŞ; BİR OLGU SUNUMU

Abstract

Noonan sendromu (NS) oldukça yaygın görülen otozomal dominant bir hastalıktır. Bu hastalık, konjenital kalp hastalığı, boy kısalığı, göğüs deformasyonu ve farklı yüz özellikleri ile karakterizedir. Noonan sendromunda yaygın gingivit olmasına karşın artı dişler nadir olarak görülmektedir.  Bu vaka raporunda NS’lu 12 yaşında bir erkek hastayı sunulmaktadır. Ağız içi incelemesinde anterior açık kapanış, süpernumere dişler, ön bölge dişetlerinde büyüme, diastema, konik kesici dişler, dar ve yüksek damak yapısı ve belirgin rugalar gözlenmektedir.  Hastada mevcut klinik bulgular doğrultusunda Noonan sendromu düşünülmüş olup periferik kandan yapılan SOS1 geni analizinde 11. ekzonda p.R552K mutasyonu bulunmuştur. NS’lu hastalarda artı dişlere bağlı dental problemler görülebilmektedir.  Bu olguların takip ve tedavileri sırasında çocuk diş hekimleri ile işbirliği gereklidir.

Keywords

Noonan sendromu, artı diş, SOS1, gingivit

References

• Tartaglia M, Gelb BD. Molecular genetics of Noonan syndrome. In: Zenker M., editor. Monographs in Human Genetics Vol. 17. Noonan syndrome and related disorders: A matter of deregulated Ras signaling. 1 ed. Basel; Karger Press: 2009. p. 20-39.
• Lee SM, Cooper JC. Noonan syndrome with giant cell lesions. J Indian Soc Pedod Prev Dent 2005; 15:140-5.
• Emral ME, Akcam MO. Noonan syndrome: a case report. J Oral Sience 2009; 51:301-6.
• Van der Burgt I. Noonan syndrome. Orphanet J Rare Diseas 2007; 2:4.
• Allanson JE. The Clinical Phenotype of Noonan Syndrome. In: Zenker M., editor. Monographs in Human Genetics Vol. 17. Noonan syndrome and related disorders: A matter of deregulated Ras signaling. 1 ed. Basel; Karger Press: 2009,9–19.
• Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet 2013; 26:333-42.
• Ezirganlı Ş, Ün E, Kırtay M, Özer K, Köşger HH. Sivas bölgesindeki artı dişlerin yaygınlığının araştırılması. 2011; 21: 189-95.
• Toureno L, Park JH. Atypical orofacial conditions in Noonan syndrome: A case report. J Clin Pediatr Dent 2011; 36:197-202.
• Tartaglia M, Gelb BD, Zenker M. Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab 2011; 25:161- 79.
• Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 2007; 39: 70-4.