Öz
Coffin-Siris Syndrome (CSS) is a rare genetic disease with delayed growth, congenital anomalies, abnormal facial features, and mental retardation. Hypoplasia of the 5th fingers or nail agenesis, hirsutism, coarse facial appearance, thick eyebrows, wide lips and nose, dentofacial anomalies, and delayed eruption of teeth are clinically distinctive features. Specific findings and multidisciplinary approac-hes are important for dental treatments. This case report includes the clinical, oral findings, and dental treatments of the patient with CSS. A 15.5-year-old female patient consulted our clinic with the complaint of tooth sensitivity and missing teeth. The patient's family was informed that the patient has CSS. In clinical examination, coarse face, mental retardation, hypoplastic 5th fingers, wide mouth, and lips, sparse hair, and hirsutism, in the oral examination, poor oral hygiene, dental caries, delayed dentition, lack of upper perma-nent first incisor, gingival hyperplasia, gingivitis, and hypoplasia were seen. Panoramic radiography and tomography revealed that the upper permanent incisor and supernumerary canine teeth were impacted. Under general anesthesia, dental scaling, fillings were made, impacted permanent incisors, canine, and lower left third molars were extracted. After general anesthesia, fluoride application and a fiber-supported Maryland bridge designed from the patient's teeth were applied to the anterior region. Regular controls of the patient continue. After the growth and development, the oral surgery department will be consulted for implant application. In den-tistry, preventive applications, oral hygiene motivation, pharmacological and non-pharmacological treatments are important for CSS patients. After consultation with relevant departments, multidisciplinary approaches and appropriate treatments increase the quality of life.
Anahtar Kelimeler
Coffin-Siris syndrome Fifth digit syndrome Hypoplasia Mental retardation
Kaynakça
- 1. Coffin GS, Siris E. Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child. 1970;119:433-9.
- 2. Vergano SS, Deardorff MA. Clinical features, diagnos-tic criteria, and management of Coffin-Siris syndrome. Am J Med Genet C. 2014;166:252-6.
- 3. Mustafa S, Ahmed R, Goel S, Medicine O, Subharti R, Pradesh U. Coffin Siris syndrome : a rare case report. Indian J Res. 2016;5:558-9.
- 4. Vasko A, Drivas TG, Schrier Vergano SA. Genotype-phenotype correlations in 208 individuals with Cof-fin-Siris syndrome. Genes (Basel). 2021;12:937.
- 5. McCague EA, Lamichhane R, Holt N, Schrier Vergano SA. Growth charts for individuals with Coffin-Siris syndrome. Am J Med Genet A. 2020;182:2253-62.
- 6. Mannino EA, Miyawaki H, Santen G, Schrier Vergano SA. First data from a parent-reported registry of 81 individuals with Coffin–Siris syndrome: natural his-tory and management recommendations. Am J Med Genet A. 2018;176:2250-8.
- 7. Kosho T, Miyake N, Carey JC. Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and re-cent advances using next generation sequencing. Am J Med Genet C. 2014;166:241-51.
- 8. Divakar D, Ubale PV, Gujjar P. Anesthetic manage-ment of a patient with Coffin–Siris syndrome. JRIA. 2019;4:16-8.
- 9. Park H, Kim MS, Kim J, Jang JH, Choi JM, Lee SM, et al. A boy with Coffin-Siris syndrome with a novel fra-meshift mutation in ARID1B. Neuro Endocrinol Lett. 2021;41:285-9.
- 10. Figueira HS, Medina PO, de Jesus GP, Hanan ARA, Júnior ECS, Hanan S. Oral findings in Coffin-Siris syndrome: a case report. Rev Port Estomatol Med Dent Cir Maxilofac. 2021;62:42-9.
- 11. Curcio MR, Ferranti S, Lotti F, Grosso S. Coffin-Siris syndrome and epilepsy. J Neurol Sci. 2021;42:727-9.
- 12. Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, et al. SMARCE1, a rare cause of Coffin–Siris synd-rome: clinical description of three additional cases. Am J Med Genet A. 2016;170:1963-7.
- 13. Boerstler T, Wend H, Krumbiegel M, Kavyanifar A, Reis A, Lie DC, et al. CRISPR/Cas9 mediated genera-tion of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome. Stem Cell Res. 2020;47:101889.
- 14. Schrier SA, Bodurtha JN, Burton B, Chudley AE, Chiong MA, D’avanzo MG, et al. The Coffin-Siris synd-rome: a proposed diagnostic approach and assess-ment of 15 overlapping cases. Am J Med Genet A. 2012;158A:1865-76.
- 15. Fleck BJ, Pandya A, Vanner L, Kerkering K, Bodurtha J. Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. Am J Med Ge-net. 2001;99:1-7.
- 16. Ozkan AS, Akbas S, Yalin MR, Ozdemir E, Koylu Z. Successful difficult airway management of a child with Coffin-Siris syndrome. Clin Case Rep. 2017;5:1312-4.
- 17. Rutherford SJ, Glenny AM, Roberts G, Hooper L, Worthington HV. Antibiotic prophylaxis for preven-ting bacterial endocarditis following dental procedu-res. Cochrane Database of Syst Rev. 2022;5:CD003813. 18. Daly CG. Antibiotic prophylaxis for dental procedures. Aust Prescr. 2017;40:184-8.
- 19. Natsume T, Takano K, Motobayashi M, Kosho T. He-patomegaly in a boy with ARID1B-related Coffin–Siris syndrome. Pediatr Int. 2018;60:378-80.
- 20. Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Mat-sumoto N, Makita Y, et al. Coffin-Siris syndrome is a SWI/SNF complex disorder. Clin Genet. 2014;85:548-54.
- 21. Fujita T, Ihara Y, Hayashi H, Ishii A, Ideguchi H, Inoue T, et al. Coffin‐Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B. Congenit Anom (Kyoto). 2020;60:189-93.
- 22. Baakdah RA, Turkistani JM, Al-Qarni AM, Al-Abdali AN, Alharbi HA, Bafaqih JA, et al. Pediatric den-tal treatments with pharmacological and non-pharmacological interventions: a cross‐sectional study. BMC Oral Health. 2021;21:186.
- 23. Kosho T, Okamoto N, Ohashi H, Tsurusaki Y, Imai Y, Hibi-Ko Y, et al. Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. Am J Med Genet A. 2013;161:1221-37.
- 24. Sardana D, Goyal A, Gauba K, Kapur A, Manc-handa S. Effect of specially designed oral health preventive programme on oral health of visu-ally impaired children: use of audio and tactile aids. Int Dent J. 2019;69:98-106.
- 25. Arandi NZ, Mustafa S. Maxillary lateral incisor agenesis; a retrospective cross-sectional study. Saudi Dent J. 2018;30:155-60.
- 26. Hegde R, Sargod S, Baliga S, Raveendran R. Transitional dental implant in adolescent pati-ent- a narrative review. J Indian Soc Pedod Prev Dent. 2021;39:347-52.
- 27. Moghadam MM. Implant applications for child-ren. Int J Contemp Den Med Rev. 2017;7:1-7.
Öz
Coffin Siris Sendromu (CSS), büyüme ve gelişim geriliği, çoklu konjenital anomaliler, anormal yüz özellikleri, mental retardasyonla karakterize nadir görülen genetik bir hastalıktır. 5. parmakların hipoplazisi veya tırnak agenezi, hirsutizm, kaba yüz görünümü, kalın kaş, geniş dudak ve burun, dentofasiyal anomaliler, dişlerde sürme gecikmeleri klinik olarak ayırt edici özellikler arasındadır. Bu hastalarda spesifik klinik bulguların bilinmesi, multidisipliner yaklaşım, dental tedaviler açısından önemlidir. Bu vaka raporu, CSS’li hastanın klinik bulguları, ağız bulguları ve dental tedavilerini içermektedir. 15,5 yaşında kız hasta, kliniğimize dişinde hassasiyet ve diş eksikliği şikayetiyle başvurdu. Ailesinden alınan anamnezde hastanın CSS’ye sahip olduğu bildirildi. Klinik muayenede CSS bulgularını destekler nitelikte kaba yüz görünümü, mental retardasyon, 5. parmaklarda hipoplazi, geniş ağız ve dudaklar, seyrek saçlar ve hirsutizm, ağız içi muayenede ise kötü ağız hijyeni, diş çürükleri, geç dişlenme, üst sağ daimi 1. keser diş eksikliği, gingival hiperplazi, gingivitis ve hipoplaziler görüldü. Panaromik radyogrofi ve tomografiden üst daimi keser ve süpernümerer kanin dişin gömülü olduğu tespit edildi. Genel anestezi altında diş taşı temizliği, çürük dişlerin dolgusu, gömülü olan daimi keser, kanin ve alt sol 3. molar dişin cerrahi çekimi yapıldı. Genel anestezi sonrasında flor uygulaması ve ön bölge için hastanın kendi dişinden tasarlanan fiber destekli Maryland köprü uygulaması yapıldı. Hastanın düzenli kontrolleri devam etmektedir. Büyüme ve gelişim tamamlandıktan sonra implant uygulaması için cerrahi bölümüyle konsültasyon yapılacaktır. Diş hekimliğinde CSS gibi sendromlu hastalarda koruyucu uygulamalar, oral hijyen motivasyonu, farmakolojik ve non-farmakolojik yöntemlerle tedaviler önemlidir. Multidisipliner yaklaşım ve ilgili bölümlerle konsültasyon sonrasında yapılan uygun tedavilerle hastaların yaşam kalitesini arttırmak mümkündür.
Anahtar Kelimeler
Beşinci parmak sendromu Coffin-Siris sendromu Hipoplazi Mental retardasyon
Kaynakça
- 1. Coffin GS, Siris E. Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child. 1970;119:433-9.
- 2. Vergano SS, Deardorff MA. Clinical features, diagnos-tic criteria, and management of Coffin-Siris syndrome. Am J Med Genet C. 2014;166:252-6.
- 3. Mustafa S, Ahmed R, Goel S, Medicine O, Subharti R, Pradesh U. Coffin Siris syndrome : a rare case report. Indian J Res. 2016;5:558-9.
- 4. Vasko A, Drivas TG, Schrier Vergano SA. Genotype-phenotype correlations in 208 individuals with Cof-fin-Siris syndrome. Genes (Basel). 2021;12:937.
- 5. McCague EA, Lamichhane R, Holt N, Schrier Vergano SA. Growth charts for individuals with Coffin-Siris syndrome. Am J Med Genet A. 2020;182:2253-62.
- 6. Mannino EA, Miyawaki H, Santen G, Schrier Vergano SA. First data from a parent-reported registry of 81 individuals with Coffin–Siris syndrome: natural his-tory and management recommendations. Am J Med Genet A. 2018;176:2250-8.
- 7. Kosho T, Miyake N, Carey JC. Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and re-cent advances using next generation sequencing. Am J Med Genet C. 2014;166:241-51.
- 8. Divakar D, Ubale PV, Gujjar P. Anesthetic manage-ment of a patient with Coffin–Siris syndrome. JRIA. 2019;4:16-8.
- 9. Park H, Kim MS, Kim J, Jang JH, Choi JM, Lee SM, et al. A boy with Coffin-Siris syndrome with a novel fra-meshift mutation in ARID1B. Neuro Endocrinol Lett. 2021;41:285-9.
- 10. Figueira HS, Medina PO, de Jesus GP, Hanan ARA, Júnior ECS, Hanan S. Oral findings in Coffin-Siris syndrome: a case report. Rev Port Estomatol Med Dent Cir Maxilofac. 2021;62:42-9.
- 11. Curcio MR, Ferranti S, Lotti F, Grosso S. Coffin-Siris syndrome and epilepsy. J Neurol Sci. 2021;42:727-9.
- 12. Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, et al. SMARCE1, a rare cause of Coffin–Siris synd-rome: clinical description of three additional cases. Am J Med Genet A. 2016;170:1963-7.
- 13. Boerstler T, Wend H, Krumbiegel M, Kavyanifar A, Reis A, Lie DC, et al. CRISPR/Cas9 mediated genera-tion of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome. Stem Cell Res. 2020;47:101889.
- 14. Schrier SA, Bodurtha JN, Burton B, Chudley AE, Chiong MA, D’avanzo MG, et al. The Coffin-Siris synd-rome: a proposed diagnostic approach and assess-ment of 15 overlapping cases. Am J Med Genet A. 2012;158A:1865-76.
- 15. Fleck BJ, Pandya A, Vanner L, Kerkering K, Bodurtha J. Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. Am J Med Ge-net. 2001;99:1-7.
- 16. Ozkan AS, Akbas S, Yalin MR, Ozdemir E, Koylu Z. Successful difficult airway management of a child with Coffin-Siris syndrome. Clin Case Rep. 2017;5:1312-4.
- 17. Rutherford SJ, Glenny AM, Roberts G, Hooper L, Worthington HV. Antibiotic prophylaxis for preven-ting bacterial endocarditis following dental procedu-res. Cochrane Database of Syst Rev. 2022;5:CD003813. 18. Daly CG. Antibiotic prophylaxis for dental procedures. Aust Prescr. 2017;40:184-8.
- 19. Natsume T, Takano K, Motobayashi M, Kosho T. He-patomegaly in a boy with ARID1B-related Coffin–Siris syndrome. Pediatr Int. 2018;60:378-80.
- 20. Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Mat-sumoto N, Makita Y, et al. Coffin-Siris syndrome is a SWI/SNF complex disorder. Clin Genet. 2014;85:548-54.
- 21. Fujita T, Ihara Y, Hayashi H, Ishii A, Ideguchi H, Inoue T, et al. Coffin‐Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B. Congenit Anom (Kyoto). 2020;60:189-93.
- 22. Baakdah RA, Turkistani JM, Al-Qarni AM, Al-Abdali AN, Alharbi HA, Bafaqih JA, et al. Pediatric den-tal treatments with pharmacological and non-pharmacological interventions: a cross‐sectional study. BMC Oral Health. 2021;21:186.
- 23. Kosho T, Okamoto N, Ohashi H, Tsurusaki Y, Imai Y, Hibi-Ko Y, et al. Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature. Am J Med Genet A. 2013;161:1221-37.
- 24. Sardana D, Goyal A, Gauba K, Kapur A, Manc-handa S. Effect of specially designed oral health preventive programme on oral health of visu-ally impaired children: use of audio and tactile aids. Int Dent J. 2019;69:98-106.
- 25. Arandi NZ, Mustafa S. Maxillary lateral incisor agenesis; a retrospective cross-sectional study. Saudi Dent J. 2018;30:155-60.
- 26. Hegde R, Sargod S, Baliga S, Raveendran R. Transitional dental implant in adolescent pati-ent- a narrative review. J Indian Soc Pedod Prev Dent. 2021;39:347-52.
- 27. Moghadam MM. Implant applications for child-ren. Int J Contemp Den Med Rev. 2017;7:1-7.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Çocuk Diş Hekimliği |
| Bölüm | VAKA RAPORU |
| Yazarlar | |
| Yayımlanma Tarihi | 27 Aralık 2023 |
| Yayımlandığı Sayı | Yıl 2023 Cilt: 5 Sayı: 3 |
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