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

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

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