WEILL-MARCHESANI TİP II SENDROMLU BİR ÇOCUK HASTANIN ORAL VE DENTAL BULGULARI: 3 YILLIK TAKİPLİ OLGU SUNUMU

Year 2023, , 332 - 337, 15.06.2023

Burcu Güçyetmez Topal , Muhsin Elmas , Melike Tıraş

https://doi.org/10.15311/selcukdentj.1231513

Abstract

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.

Keywords

Dental anomaliler, FBN-1 gen mutasyonu, Weill-Marchesani Sendromu

ORAL AND DENTAL FINDINGS OF A CHILD WITH WEILL-MARCHESANI SYNDROME TYPE II: A CASE REPORT WITH 3-YEAR FOLLOW-UP

Abstract

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.

Keywords

Dental Anomalies, FNB-1 gene mutation, Weill-Marchesani Syndrome

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