Orofasiyal Bulgularuyla Schwartz-Jampel Sendromu: 2 Olgu Sunumu

Yıl 2023, , 153 - 156, 28.12.2023

Didem Dumanlı , Ebru Yüksel Kaya , Çiğdem Şeker , Gediz Geduk

https://doi.org/10.21306/dishekimligi.1268100

Öz

Amaç: Schwartz–Jampel Sendromu(SJS) miyotoni ile ilişkili, milyonda bir görülen nadir bir otozomal resesif iskelet displazisidir. Bu olgu sunumunda SJS’li 2 hasta ele alınmış olup hastaların klinik ve radyografik olarak incelenmesi amaçlanmıştır.
Olgu Sunumu: Kliniğimize başvuran hastalardan ilki 13 yaşında kadın ve ikinci hasta ise 34 yaşında erkektir. Hastaların her ikisinin de alınan anamnez sonucunda SJS Tip 1A’ya sahip olduğu öğrenildi. Hastaların her ikisinde de ekstraoral muayenede ağız açıklığında kısıtlılık, mikrognati, kas sertliği, temporamandibular eklem(TME) problemleri ve bruksizm tespit edildi. İntraoral muayenede her iki hastada da ilk olarak dişlerin anormal mine ve dentin yapısı dikkat çekerken buna ek olarak kadın hastada üst ve alt çenedeki dişlerin arasında diastemalar gözlemlendi, hastalarda taurodontik ve kissing molar dişler tespit edildi. Her iki hastanın da panoramik radyografilerinde mandibular ramusun uzunluğu olması gerektiğinden kısa ve tüm mandibular dişlerin apeksleriyle mandibular korteks arasındaki mesafenin azalmış olduğu tespit edildi.
Sonuç: Karakteristik yüz özellikleri, iskeletsel bozukluklar ve kas sertliği ile tanıya gidilir. Botoks uygulamaları da bu hastalarda görülen bruksizm ve TME problemlerinin semptomatik tedavisi olarak faydalıdır. Eğer hastaya genel ya da lokal anestezi altında herhangi bir tedavi uygulanacaksa mümkün olan tüm dental tedaviler bu seansta yapılmaya çalışılmalıdır. Kasların ve iskelet sisteminin yanı sıra dişler, çene kemikleri ve çevre dokular da etkilendiği için diş hekimlerinin üzerine büyük sorumluluk düşmektedir.

Anahtar Kelimeler

Bruksizm, Sendrom, lokal anestezi

Schwartz-Jampel Syndrome with Orofacial Findings: 2 Case Reports

Öz

Aim:Schwartz–Jampel Syndrome(SJS) is a rare autosomal recessive skeletal dysplasia associated with myotonia, seen in one in a million. In this case report, 2 patients with SJS were discussed and it was aimed to examine the patients clinically and radiographically.
Case Report:The first patient who applied to our clinic was a 13-year-old female and the second patient was a 34-year-old male. It was learned that both of the patients had SJS Type 1A as a result of the anamnesis. Extraoral examination revealed limitation of mouth opening, micrognathia, muscle stiffness, TMJ problems and bruxism in both patients. In the intraoral examination, abnormal enamel and dentin structure of the teeth were noted in both patients, in addition, diastemas were observed between the upper and lower jaw teeth in the female patient, and taurodontic and kissing molars were detected in the patients. Panoramic radiographs of both patients showed that the length of the mandibular ramus was short, and the distance between the apex of all mandibular teeth and the mandibular cortex was reduced.
Conclusion:Diagnosis is made by characteristic facial features, skeletal disorders and muscle stiffness. Botox applications are also useful as symptomatic treatment of bruxism and TMJ problems seen in these patients. If any treatment is to be applied to the patient under general or local anesthesia, all possible dental treatments should be tried to be performed in this session. Dentists have a great responsibility as the teeth, jaw bones and surrounding tissues are affected as well as the muscles and skeletal system.

Anahtar Kelimeler

Bruxism, Syndrome, local anesthesia

Kaynakça

• 1. Dave M, Lavanya SR, Khamesra R, Bapat P, Prasath A.Schwartz Jampel Syndrome (SJS)-One in a Million Syndrome, J Assoc Physicians India, 2020;68(8):89-90.
• 2. Viljoen D, Beighton P, Schwartz-Jampel syndrome (chondrodystrophic myotonia), Med Genet 1992;29:58-62.
• 3. Giedion A, Boltshauser E, Briner J, et al. Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Eur J Pediatr. 1997;156:214-23.
• 4. Basiri K, Fatehi F, Katirj B, The Schwartz‑Jampel syndrome: Case report and review of literatüre, Adv Biomed Res. 2015;4:163-67.
• 5. Nicole S, Ben Hamida C, Beighton P, Bakouri S, Belal S, Romero N, et al. Localization of the Schwartz‑Jampel syndrome (SJS) locus to chromosome 1p34‑p36.1 by homozygosity mapping. Hum Mol Genet. 1995;4:1633‑36.
• 6. Sreekanth K. Nigel M. King, Schwartz–Jampel syndrome: a review of the literature and case report, Spec Care Dentist. 2012;32(3):105-11.
• 7. Aberfeld DC, Hinterbuchner LP, Schneider M. Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome). Brain. 1965;88:313-22.
• 8. Diaz-Serrano K, Brandgo C, Brandlo R, Watanabe P, Regalo S, Dental findings and muscular-skeletal features in Schwartz-Jampel syndrome: case report of two affected siblings, Spec Care Dentist. 2006;26(5):225-9.
• 9. Ho NC, Sandusky S, Madike V, Francomano CA, Dalakas MC. Clinico-pathogenetic find?ings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report. BMC Neurol. 2003;3:3-5.
• 10. Cmz M, Souza CA, Plastino LS Jr. Levator aponeurosis surgery in Schwartz-Jampel syndrome. Ophthal Plast Reconstr Surg. 1998;14:271-6.