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안면신경 마비로 발현된 두개경화 동반 선상골병증 1예

A Case of Osteopathia Striata With Cranial Sclerosis Presenting as Facial Palsy

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주제분류이비인후과학

초록

Osteopathia striata with cranial sclerosis (OSCS) is a rare genetic disorder characterized byskeletal abnormalities, cranial sclerosis, and various associated features. In this case report,we present the case of a patient with OSCS who complained of unilateral facial palsy. We dis-cuss the clinical presentation, radiological findings, and genetic analysis, highlighting the im-portance of early diagnosis and multidisciplinary management in these cases.

Abstract

Osteopathia striata with cranial sclerosis (OSCS) is a rare genetic disorder characterized byskeletal abnormalities, cranial sclerosis, and various associated features. In this case report,we present the case of a patient with OSCS who complained of unilateral facial palsy. We dis-cuss the clinical presentation, radiological findings, and genetic analysis, highlighting the im-portance of early diagnosis and multidisciplinary management in these cases.

참고문헌 (9)

  1. Ng DW, "A case study of a preadolescent with osteopathia striata with cranial sclerosis", J Pediatr Health Care, 31(4), pp.511~516 (2017)
  2. Enomoto Y, "Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis", Congenit Anom(Kyoto), 58(4), pp.145~146 (2018)
  3. Jeong C, "Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis : case report", Medicine(Baltimore), 100(40), pp.e27346~ (2021)
  4. Rim NJ, "Osteopathia striata with cranial sclerosis : report of two cases", J Korean Radiol Soc, 56(3), pp.293~296 (2007)
  5. Jenkins ZA, "Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis", Nat Genet, 41(1), pp.95~100 (2009)
  6. Jagtap R, "Osteopathia striata in the mandible with cranial sclerosis : a case report and review of the literature", J Korean Assoc Oral Maxillofac Surg, 47(2), pp.141~144 (2021)
  7. Kornreich L, "Osteopathia striata, cranial sclerosis with cleft palate and facial nerve palsy", Eur J Pediatr, 147(1), pp.101~103 (1988)
  8. Pellegrino JE, "Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis : an X-linked disorder?", Am J Med Genet, 70(2), pp.159~165 (1997)
  9. Sinibaldi L, "Osteopathia striata with cranial sclerosis : a new case supporting the link with bilateral Wilms tumor", Eur J Hum Genet, 30(3), pp.262~264 (2022)

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