• Advances in pediatric surgery
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• 제6권2호
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• pp.160-165
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• 2000

저자들은 확정되지 않은 악성의 가능성을 가진 부신 피질 방추세포 종양 (adrenal cortical spindle cell neoplasm of indeterminate malignant potential)을 동반한 Beckwith-Wiedemann 증후군을 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• 대한장애인치과학회지
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• 제12권2호
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• pp.92-95
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• 2016

Beckwith-Wiedemann syndrome은 다양한 임상적 특징을 보이는 질환이다. 거대설은 BWS 환아에서 가장 흔히 관찰되는 특징으로 그로 인한 섭식 문제와 호흡곤란이 야기될 수 있어 치과 치료 시, 주의를 요하게 된다. 또한 거대설로 야기될 수 있는 골격적인 문제에 대한 장기적인 평가가 필요하다.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제27권6호
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• pp.559-564
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• 2005

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 clinicopathologic entity characterized by macroglossia, abdominal wall defects (omphalocele), visceromegaly, gigantism, hemihypertrophy, hypoglycemia, and the increased risk of solid tumor development from multiple cell lines. A macroglossia is a key component of the syndrome, and can lead to cosmetic, functional and psychologic disorder. This report shows a 5-year-old patient with Beckwith-Wiedemann syndrome, who had macroglossia and received reduction glossectomy.

• Journal of Dental Anesthesia and Pain Medicine
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• 제16권4호
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• pp.313-316
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• 2016

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 of difficult airway caused by conditions such as macroglossia in patients with this syndrome could be challenging. We encountered a case of difficult airway in an infant with Beckwith-Wiedemann syndrome. It was predicted that macroglossia might cause difficult ventilation, intubation, and extubation. Preoperative assessment and preparations for difficult airway should be considered.

• Journal of Genetic Medicine
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• 제18권1호
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• pp.24-30
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• 2021

Epigenetics deals with modifications in gene expression, without altering the underlying DNA sequence. Genomic imprinting is a complex epigenetic phenomenon that refers to parent-of-origin-specific gene expression. Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are congenital imprinting disorders with mirror opposite alterations at the genomic loci in 11p15.5 and opposite phenotypes. BWS and SRS are important imprinting disorders with the increase of knowledge of genetic and epigenetic mechanisms. Altered expression of the imprinted genes in 11p15.5, especially IGF2 and CDKN1C, affects fetal and postnatal growth. A wide range of imprinting defects at multiple loci, instead of a restricted locus, has been shown in some patients with either BWS or SRS. The development of new high-throughput assays will make it possible to allow accurate diagnosis, personalized therapy, and informative genetic counseling.

• Journal of Genetic Medicine
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• 제7권2호
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• pp.133-137
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• 2010

목 적: Beckwith-Wiedemann 증후군(BWS)은 11p15 부위의 메칠화 양상의 이상으로 인한 overgrowth malformation symdrome이다. 11p15 부위에는 두 가지 imprinting center, 즉BWSIC1 (IGF2, H19)와 BWSIC2 (LIT1,KvDMR)가 존재한다. 본 연구에서는 methylation-specific (MS) PCR RFLP 방법을 이용한 BWS의 유전적 진단을 보고하고자 한다. 대상 및 방법: 임상 소견을 바탕으로 12명의 BWS 환자가 포함되었다. 환자의 말초혈액으로부터 염색체 핵형을 조사하였다. 분리한 DNA에 bisulfite를 처리한 후, LIT1, H19, IGF2 DMR부위는 각각의 MS primer를 이용하여 증폭하였다. 적절한 제한효소를 이용하여 절단 여부를 PAGE로 확인함으로써 각각의 DMR 부위에 대한 메칠화 이상 여부를 확인하였다. 결 과: 12명의 환자는 모두 정상 핵형을 보였다. MS-PCR RFLP 상 총 7명(53.8%)의 환자가 이상 소견을 보였으며, 모두 BWSIC2 (LIT1)에 비정상적 메칠화를 보였고 모두 부계 유래의 비메칠화된 allele만이 발견되었다. 결 론: 본 연구를통해MS-PCR RFLP 검사로BWS 환자의 약 50-60% 정도에서 유전적 진단이 가능함을 알 수 있었으며, 이는 BWSIC2 부위의 메칠화 이상을 발견하는데 손쉽게 이용될 수 있을 것으로 판단된다. 그러나, BWSIC1 부위의 메칠화 이상은 발견이 어려우며, 이 부위의 이상을 발견하기 위해서는 메칠화를 정량적으로 분석할 수 있는 방법이 필요하다.

• Journal of Genetic Medicine
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• 제15권2호
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• pp.64-71
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• 2018

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 analyzed. Materials and Methods: We recruited 13 patients who presented with overgrowth syndrome. All patients fulfilled inclusion criteria of overgrowth syndrome. Analysis of the clinical and molecular investigations of patients with overgrowth syndrome was performed retrospectively. Results: Among the 13 patients with overgrowth syndrome, 9 patients (69.2%) were found to have molecular and genetic causes. Among the seven patients with Sotos syndrome (SS), two had a 5q35microdeletion that was confirmed by fluorescent in situ hybridization. In two patients with SS, intragenic mutations including a novel mutation, c.5993T>A (p.M1998L), were found by Sanger sequencing. One patient had one copy deletion of NDS1 gene which was confirmed by multiplex ligation-dependent probe amplification. Among five patients with Beckwith-Wiedemann syndrome, three had aberrant imprinting control regions; 2 hypermethylation of the differentially methylated region of H19, 1 hypomethylation of the differentially methylated region of Kv. In one patient displaying overlapping clinical features of SS, a de novo heterozygous deletion in the chromosomal region 7q22.1-22.3 was found by single nucleotide polymorphism-based microarray. Conclusion: Considering high detection rate of molecular and genetic abnormalities in this study, rigorous investigations of overgrowth syndrome may be an important tool for the early diagnosis and genetic counseling. A detailed molecular analysis of the rearranged regions may supply the clues for the identification of genes involved in growth regulation.

• Journal of Yeungnam Medical Science
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• 제3권1호
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• pp.367-374
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• 1986

저자들은 1985년부터 1986년까지 만 2년간 본원 소아과에서 경험한 정신운동발달의 지연을 동반한 염색체질환외 다발성기형아 9예를 중심으로 이 질환에서의 진단상 문제점과 그 개선책에 대해 토의, 정리하였다.

• 대한구순구개열학회지
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• 제15권2호
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• pp.83-88
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• 2012

Macroglossia is a relatively uncommon condition that occurs in pediatric patients for several reasons and contributes to variety of functional problems. Most of macroglossia arises from tissue overgrowth and tongue muscle hypertrophy. There are no definite guideline in prenatal management or diagnosis in this conditions. However, macroglossia is often associated with syndrome or congenital disease, prenatal diagnosis is important in early detection. There are difficulty in measurement of tongue size, and standardization. Macroglossia can be risky in some aspects, such as airway obstruction. In this review, the author suggest prenatal ultrasonographic findings of macroglossia, investigate differential diagnosis of conditions associated with macroglossia, and management in clinical situation. Macroglossia, when present, can cause a number of functional and aesthetic problems for individuals. Treatment of this problem is challenging and controversial.