지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 233 - 237 (5page)
이용수
초록· 키워드
오류제보하기
Wolf-Hirschhorn syndrome is a congenital disorder associated with partial deletion of the short arm of chromosome 4. The majority of patients showed characteristic facial anomalies - so called “Greek-Helmet” appearances - mental retardation, growth retardation, and developmental delay. Here we report the case of a 3-year-old girl who was diagnosed as having Wolf-Hirschhorn syndrome immediately at birth with distinct facial anomalies and an abnormal chromosomal karyotype [46,XX,del(4)(p14)]. The patient later presented with status epilepticus and magnetic resonance imaging showed periventricular nodular heterotopia.
목차
등록된 정보가 없습니다.
참고문헌 (22)
참고문헌 신청
Acar G / 2012 / A case report of surgically treated drug resistant epilepsy associated with subependymal modular heterotopia / Seizure 21 : 223 ~ 226
Battaglia A / 2001 / Wolf-Hirschhorn (4p-) syndrome / Adv Pediatr 48 : 75 ~ 113
Battaglia A / 2009 / Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome:experience with 87 patients / Dev Med Child Neurol 51 : 373 ~ 380
Byeon SJ / 2011 / The wolf-hirschhorn syndrome in fetal autopsy / Korean J Pathol 45 : S15 ~ 19
Chitayat D / 1995 / Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature / Am J Med Genet 55 : 147 ~ 154
Battaglia A / 2001 / Wolf-Hirschhorn (4p-) syndrome / Adv Pediatr 48 : 75 ~ 113
Battaglia A / 2009 / Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome:experience with 87 patients / Dev Med Child Neurol 51 : 373 ~ 380
Byeon SJ / 2011 / The wolf-hirschhorn syndrome in fetal autopsy / Korean J Pathol 45 : S15 ~ 19
Chitayat D / 1995 / Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature / Am J Med Genet 55 : 147 ~ 154
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