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Beckwith-Wiedemann Syndrome and Jacobsen Syndrome Caused by 11pter Duplication and 11qter Deletion Inherited from Paternal Pericentric Inversion

Choi WK, Lim SE, Kim GH, Lee BH, Seol CA, Seo EJ

We report a case of Beckwith-Wiedemann syndrome (BWS) and Jacobsen syndrome (JBS) due to 11pter trisomy and 11qter monosomy caused by paternal inv(11)(p15.1q24.2). The patient was born premature and had...
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Adrenal Cortical Neoplasm with Uncertain Malignant Potential Arising in the Heterotopic Adrenal Cortex in the Liver of a Patient with Beckwith-Wiedemann Syndrome

Kim EN, Song DE, Yoon HM, Lee BH, Kim CJ

Patients with Beckwith-Wiedemann syndrome (BWS) are predisposed to developing embryonal tumors, with hepatoblastoma being the most common type. Our patient showed hemihypertrophy, macroglossia, and paternal uniparental disomy in chromosome 11...
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Genetic overgrowth syndrome: A single center's experience

Cheon CK, Kim YM, Yoon JY, Kim YA

PURPOSE: Overgrowth syndromes are conditions that involve generalized or localized areas of excess growth. In this study, the clinical, molecular, and genetic characteristics of Korean patients with overgrowth syndrome were...
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Perioperative airway management of a patient with Beckwith-Wiedemann syndrome

Tsukamoto , Hitosugi T, Yokoyama T

Airway obstruction in pediatric patients always poses a challenge for anesthesiologists. Beckwith-Wiedemann syndrome causes various abnormalities such as macroglossia and omphalocele. Patients with these abnormalities often need corrective surgeries. Management...
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Genetic syndromes associated with overgrowth in childhood

Ko JM

Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology...
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Genetic Diagnosis of Beckwith Wiedemann Syndrome using Methylation Specific PCR-RFLP Method

Kim GH, Lee JJ, Choi SH, Lee JY, Lee BH, Yoo HW

  • KMID: 2184478
  • J Genet Med.
  • 2010 Dec;7(2):133-137.
PURPOSE: Beckwith-Wiedemann syndrome (BWS) is an overgrowth malformation syndrome caused by a methylation abnormality at chromosome 11p15, consisting of two imprinting centers, BWSIC1 (IGF2, H19) and BWSIC2 (LIT1, KvDMR). This...
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Anesthetic management of children with Beckwith-Wiedemann syndrome : Two cases report

Kim HJ, Kim JT, Kim HJ, Kim HS, Kim CS, Kim SD

Beckwith-Wiedemann syndrome consists of various abnormalities, including macroglossia, visceromegaly, omphalocele, and neonatal hypoglycemia. These abnormalities frequently require operative correction and careful anesthetic management. Principal problems associated with anesthetic management in...
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Reduction glossectomy of macroglossia in beckwith-wiedemann syndrome : a case report

Kim HK, Kim ES, Ko YK, Kim SG

  • KMID: 1575609
  • J Korean Assoc Maxillofac Plast Reconstr Surg.
  • 2005 Nov;27(6):559-564.
Beckwith-Wiedemann syndrome is an autosomal dominant growth excess disorder, which occurs with a reported incidence of 1 in 13,700 to 1 in 17,000 live births. It constitutes a discrete...
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A Case of Beckwith-Wiedemann Syndrome that Could be Diagnosed by Antenatal Care

Kim SK, Kim JA, Chang YP, Park JW, Hur EJ

  • KMID: 2072351
  • Korean J Perinatol.
  • 2002 Mar;13(1):56-61.
Beckwith-Wiedemann syndrome(BWS) is a group of disorders having in common coexistence of a macrosomia, macroglossia, abdominal wall defects, visceromegaly, hypoglycemia in the neonatal period and embryonal cancers of infancy and...
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A CASE OF TONGUE RESECTION IN MACROGLOSSIA AS A PRESENTATION OF BECKWITH-WIEDEMANN SYNDROME

Ahn KY, Jang KS, Park DH, Hwang JB

  • KMID: 2119323
  • J Korean Soc Plast Reconstr Surg.
  • 1997 Jan;24(1):199-204.
The Beckwith-Wiedemann syndrome, originally described by Beckwith in 1963 and Wiedemann in 1964, included congenital anomalies such as macroglossia, exomphalos, postnatal somatic gigantism, severe hypoglycemia, abdominal wall defect, capillary nevus...
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Testicular Yolk Sac Tumor in Beckwith-Wiedemann Syndrome

Park BJ, Jeong IY, Ro DW, Kim DY, Park JS

  • KMID: 1663291
  • Korean J Urol.
  • 1996 Dec;37(12):1417-1420.
The Beckwith-Wiedemann syndrome, which included congenital anomalies such as macroglossia, exomphalos, postnatal somatic gigantism, have a substantially increased risk for the development of tumor. We report a case of testicular...
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Beckwith-Wiedemann Syndrome with Unusual Sialoadenomegaly

Han HS, Lee SS, Lee SK, Chi JG

  • KMID: 1725166
  • Korean J Pathol.
  • 1996 Oct;30(10):939-942.
Beckwith-Wiedemann syndrome is a rare clinical entity characterized by exomphalos, macroglossia, macrosomia, and renal hyperplasia/dysplasia. Although its entity is established, its etiology and obligatory features have not been settled. We...
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