• Advances in pediatric surgery
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• v.6 no.2
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• pp.160-165
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• 2000

Beckwith-Wiedemann syndrome presents with multisystemic patterns of congenital anomalies and macrosomia. This syndrome was independently described by Beckwith in 1963 and by Wiedemann in 1964. There is wide spectrum of clinical manifestations, including prenatal or postnatal overgrowth, neonatal hypoglycemia, macroglossia, visceromegaly, omphalocele, hemihypertrophy and a predisposition for embryonal tumors, most frequently Wilms' tumor. We managed a case of Beckwith-Wiedemann syndrome with left adrenal cortical neoplasm of undetermined malignancy.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.12 no.2
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• pp.92-95
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• 2016

Beckwith-Wiedemann syndrome comprises multiple congenital anomalies with a risk of development of childhood tumors. Macroglossia is the predominent finding in Beckwith-Wiedemann syndrome and other findings include postnatal somatic gigantism, abdominal wall defects, nevus flammeus of the face, congenital heart defects, and cleft palate. The aim of this case presentation is to describe the dental treatment of a child with Beckwith-Wiedemann syndrome. A 3-year-old boy with Beckwith-Wiedemann syndrome visited to the Seoul National University Dental Hospital for dental evaluation and treatment. Due to the multiple caries and poor cooperation, we planned to perform the dental procedure under general anesthesia. The dental procedure was successfully performed and there was no airway complications after extubation. This case suggests that general anesthesia may be useful for the patient with uncooperative Beckwith-Wiedemann syndrome, since macroglossia and laryngomalacia may exacerbates airway compromise during dental sedation.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.27 no.6
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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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• v.16 no.4
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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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• v.18 no.1
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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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• v.7 no.2
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• pp.133-137
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• 2010

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 study evaluated the applicability of a methylation-specific (MS) PCR RFLP method for the genetic diagnosis of BWS. Materials and Methods: A total of 12 patients were recruited based on clinical findings. Karyotyping was performed using peripheral blood leukocytes, and genomic DNA was treated with bisulfate and amplified using methylation-specific primers. RFLP was conducted with restriction enzymes in differentially methylated regions of LIT1, H19, and IGF2. Results: The 12 BWS patients had normal karyotypes. Abnormal methylation patterns in the BWSIC2 (LIT1) region were identified in seven patients (58.3%) using the MS-PCR RFLP method. Conclusions: The MS-PCR RFLP method is a simple, economical genetic test. It detected genetic abnormalities in 50-60% of BWS patients, suggesting that it can be used as a screening test. A more precise method is required, however, to enhance the detection rate of genetic abnormalities, especially in BWSIC1 region.

• Journal of Genetic Medicine
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• v.15 no.2
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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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• v.3 no.1
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• pp.367-374
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• 1986

To make better clinical diagnosis, authors reviewed 9 patients of nonchromosomal multiple malformation disorders with psychomotor retardation, who were evaluated at pediatric department of Yeungnam University hospital for recent 2 years. We could make clinical diagnosis in 5 patients out of 9 as Aarskog syndrome, Beckwith-Wiedemann syndrome, Hallermann-Streiff syndrome, Rubinstein Taybi syndrome and Weaver syndrome. But even in diagnosed cases, there were many discrepant findings in comparison with typical cases of reference literatures and family history was positive in only one case. Moreover we could not make diagnosis in 4 patients. Therefore we think it is necessary to make a survey of unique pattern, incidence, distribution and etiologic factors of malformation disorders in our country by geneticist and pediatrician as well as to improve the laboratory aids for better diagnosis and genetic counceling.

• Korean Journal of Cleft Lip And Palate
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• v.15 no.2
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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.