- A Case of Wolf-Hirschhorn Syndrome with Long Term Survival Diagnosed by Fluorescent In-situ Hybridization (FISH)
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Dong ES, Kim MJ, Ahn YM, Koo MS, Yong HK, Lee A
- KMID: 2335485
- J Korean Pediatr Soc.
- 2000 Mar;43(3):438-443.
Wolf-Hirschhorn syndrome is a multiple malformation syndrome associated with mental and developmental retardation, resulting from a deletion at the short arm of chromosome 4 (4p16.3). We report a 11-year-old girl... -
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- Prenatal diagnosis of 4p deletion syndrome: A case series report
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Kwak DW, Ahn HK
- KMID: 2386609
- J Genet Med.
- 2017 Jun;14(1):38-42.
- doi: 10.5734/JGM.2017.14.1.38
The 4p deletion syndrome, also known as Wolf-Hirschhorn syndrome, is a well-known genetic disorder caused by a partial deletion of the short arm of chromosome 4. The great variability in... -
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- Wolf-Hirschhorn (4p-) Syndrome Presenting with Status Epilepticus
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Jun JY, Yu HJ, Lim BC, Lee J, Chae JH, Lee M
- KMID: 1431581
- J Korean Epilepsy Soc.
- 2013 Jun;17(1):17-21.
Wolf-Hirschhorn syndrome is a well-recognized malformation syndrome with multiple congenital anomalies, resulting from partial deletion of the short arm of chromosome 4 (4p-). All affected individuals have intrauterine and postnatal... -
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- Anesthetic considerations for a pediatric patient with Wolf-Hirschhorn syndrome: a case report
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Tsukamoto , Yamanaka H, Yokoyama T
- KMID: 2390809
- J Dent Anesth Pain Med.
- 2017 Sep;17(3):231-233.
- doi: 10.17245/jdapm.2017.17.3.231
Wolf-Hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay, intellectual disability, and congenital... -
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- A Case of Wolf-Hirschhorn Syndrome with Periventricular Nodular Heterotopia Presenting with Status Epilepticus
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Suh BS, Ko KH, Lee KH, Sung TJ
- KMID: 2130694
- Neonatal Med.
- 2015 Nov;22(4):233-237.
- doi: 10.5385/nm.2015.22.4.233
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... -
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- A Case of Wolf-Hirschhorn Syndrome Resulting from Familial Translocation
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Yoon SY, Hur JK, Jeong DC, Lee WB, Oh CK
- KMID: 2335427
- J Korean Pediatr Soc.
- 1999 Aug;42(8):1149-1153.
Wolf-Hirschhorn syndrome is caused by a partial loss of the distal short arm of chromosome 4. Characteristic clinical features are severe growth retardation, mental retardation, seizures, congenital cardiac defects, urogenital... -
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- A case of Deletion of Chromosome 4p
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Lee SE, Kim JS, Kim MC, Lee DW, Lee YH, Lee MS, Lee SC
- KMID: 2270651
- Korean J Obstet Gynecol.
- 2002 Dec;45(12):2303-2306.
We have known that deletion of chromosomal 4p resulted Wolf-Hirschhorn syndrome. Wolf-Hirschhorn syndrome, first described in 1965 by Wolf et al and Hirschhorn et al, is defined multiple congenital anomalies... -
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- Anesthetic experience using total intra-venous anesthesia for a patient with Wolf-Hirschhorn syndrome: A case report
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Choi JH, Kim JH, Park YC, Kim WY, Lee YS
- KMID: 1766530
- Korean J Anesthesiol.
- 2011 Feb;60(2):119-123.
- doi: 10.4097/kjae.2011.60.2.119
We present here the case of a 33-month-old male patient with Wolf-Hirschhorn syndrome (WHS) and who underwent tympanoplasty and myringotomy. WHS is caused by a rare chromosomal abnormality, which is... -
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- The Wolf-Hirschhorn Syndrome in Fetal Autopsy: A Case Report
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Byeon SJ, Myung JK, Park SH
- KMID: 1443654
- Korean J Pathol.
- 2011 Jul;45(Suppl 1):S15-S19.
- doi: 10.4132/KoreanJPathol.2011.45.S1.S15
Wolf-Hirschhorn syndrome (WHS) is a malformation associated with a hemizygous deletion of the distal short arm of chromosome 4. Herein we report a fetal autopsy case of WHS. A male... -
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- Prenatal Diagnosis of the Wolf-Hirschhorn Syndrome
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Lee MH, Park SY, Ryu HM, Hong SR, Lee YH, Choi SK
- KMID: 1540013
- J Genet Med.
- 1998 Dec;2(2):49-51.
Wolf-Hirschhorn syndrome (WHS) is caused by a deletion of the short arm on chromosome 4 and is characterized by multiple congenital abnormalities, growth and mental retardation. In this case report,... -
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- A case of 4p- syndrome with oligomeganephronia
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Lee RS, Kong BS, Kim BI, Park SK, Park HJ, Lee SD, Chi JG
- KMID: 1691837
- J Korean Pediatr Soc.
- 1991 Apr;34(4):558-565.
No abstract available. -
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- A Case of Wolf-Hirschhorn Syndrome with del (4) (p15.2)
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Lee JS, Kang ES, Huh JW, Yoo JH, Lee YK, Cho HC, Hong KS
- KMID: 2300520
- Korean J Clin Pathol.
- 1999 Feb;19(1):137-140.
Wolf-Hirschhorn syndrome (WHS) is a congenital anomaly associated with partial deletion of distal short arm of chromosome 4, characterized by distinct facial anomalies ("Greek-Helmet"), mental and growth retardation and midline... -
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- Recombinant Chromosome 4 with Partial 4p Deletion and 4q Duplication Inherited from Paternal Pericentric Inversion
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Mun SJ, Cho EH, Chey MJ, Shim GH, Shin BM, Lee RK, Ko JK, Yoo SJ
- KMID: 1096825
- Korean J Lab Med.
- 2010 Feb;30(1):89-92.
- doi: 10.3343/kjlm.2010.30.1.89
Pericentric inversion of chromosome 4 can give rise to 2 alternate recombinant (rec) chromosomesby duplication or deletion of 4p. The deletion of distal 4p manifests as Wolf-Hirschhorn syndrome (WHS). Here,... -
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- Lactic Acidosis in Children: Clinical and Laboratory Evaluation
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Kim WJ, Yang YJ, Chung HJ
- KMID: 2329324
- J Korean Child Neurol Soc.
- 2005 Nov;13(2):243-251.
PURPOSE: Lactic acidosis is one of the most common forms of metabolic acidosis. It is hard to fine the cause of lactic acidosis, because in many cases the clinical features... -
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