SavedAdd your journal

Journals / Yeni Tıp Dergisi / 2010 / Cilt: 27 - Sayı: 1

Macroglossia which is requiring surgery in Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann Sendromu’nda cerrahi gerektiren dil büyüklüğü

Nesibe ANDIRAN
HALİSE AKÇA
Sadi TÜRKAY
Nedim SARIFAKIOĞLU
Pages
57–60
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Here, we report a 5 years old female patient, presented with severe macroglossia which required “wedge resection” and diagnosed as BWS, who was the product of an intracytoplasmic sperm injection pregnancy.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Beckwith-Wiedemann Syndrome is a rare genetic disorder due to disruption of the genomic imprinting of one or more genes or mutations at 11p15.5 locus.
📊
Key Findings & Data:Most cases are sporadic, only few are familial.
💡
Conclusion & Impact:Here, we report a 5 years old female patient, presented with severe macroglossia which required “wedge resection” and diagnosed as BWS, who was the product of an intracytoplasmic sperm injection pregnancy.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Beckwith-Wiedemann Syndrome is a rare genetic disorder due to disruption of the genomic imprinting of one or more genes or mutations at 11p15.5 locus. Most cases are sporadic, only few are familial. BWS is characterized mainly by macroglossia, macrosomia and abdominal wall defects. Macroglossia is the most common one among the craniofacial anomalies. It was noticed that most patients with sporadic BWS are the product of conceptions with assisted reproductive technologies and the association between BWS and assisted reproductive technologies is confirmed with many studies. Here, we report a 5 years old female patient, presented with severe macroglossia which required “wedge resection” and diagnosed as BWS, who was the product of an intracytoplasmic sperm injection pregnancy.

Özet

Beckwith-Wiedemann Sendromu (BWS) 11p15,5 loku-sundaki genleri etkileyen epigenetik olaylar veya mutas-yonlar sonucu oluşan nadir bir genetik hastalıktır. Çoğunlukla sporadiktir, az bir kısmı ailevi geçiş gösterir. Makrozomi, makroglossi ve karın ön duvarı defektleri üç ana bulgusudur ve makroglossi kraniyofasyal anomalile-rin içinde en sık görülenidir. Sporadik BWS’li bebeklerin önemli bir kısmının yardımcı üreme teknikleri [in-vitro fertilizasyon (IVF)-hücre içi sperm enjeksiyonu (ICSI)] kullanılarak doğmuş olması dikkat çekmiş ve yardımcı üreme teknikleri ile BWS arasında ilişki gösterilmiştir. Burada ICSI gebeliği olan ve 5 yaşında iken ağır dil büyüklüğü nedeni ile gelerek BWS tanısı alıp, buna yöne-lik cerrahi gerektiren bir olgu sunulmaktadır.

🔖

Cite This Article

ANDIRAN, N., AKÇA, H., TÜRKAY, S., SARIFAKIOĞLU, N. (2010). Macroglossia which is requiring surgery in Beckwith-Wiedemann Syndrome. Yeni Tıp Dergisi, Cilt: 27 - Sayı: 1, 57–60. https://ajindex.com/articles/338463

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (15)

  1. Beckwith JB. Extreme cytomegaly of adrenal fetal cortex, omphalocele, hyperplasia of kidneys and pancreas and leydig cell hyperplasia: Another syndrome? Presented at the Annual Meeting of the western Society for Pediatrics Research 1963
  2. Wiedemann Hr. Familial Malformation Complex With Umbilical Hernia and Macroglossia--A "New Syndrome"? J Genet Hum 1964;13: 223-32
  3. Reish O, Lerer I, Amiel A. Wiedemann-Beckwith syndrome: further prenatal characterization of the condition. Am J Med Genet 2002;107: 209–13
  4. Richard CW 3rd, Boehnke M, Berg DJ, Lichy JH, Meeker TC, Hauser E, et al. A radiation hybrid map of the distal short arm of human chromosome 11, containing the Beckwith-Wiedemann and associated embryonal tumor disease loci. Am J Hum Genet 1993;52:915-21
  5. Gomes MV, Ramos ES. Beckwith-Wiedemann syndrome and isolated hemihyperplasia. Sao Paulo Med J 2003;121: 133-8
  6. Derek Lim, Sarah C. Bowdin, Louise Tee, Kirby GA, Blair E, Fryer A, et al. Clinical and molecular genetic features of Beckwith–Wiedemann syndrome associated with assisted reproductive technologies, Human Reproduction 2009;1: 1–7
  7. Engstrom W, Lindham S, Schofield P. Wiedemann Beckwith Syndrome. Eur J Pediatr 1988;147: 450-7
  8. Castillo-Morales R. Die Orofacial Regulationstherapie. Munchen, Germany: Pflaum Verlag; 1991
  9. Clauser L, Galie` M, Curioni C. Lymphangioma of the tongue. A case report. Rivista Italiana di Chirurgia Plastica 2000;32: 157-9
  10. Menard RM, Delarie J, Schendel SA. Treatment of the craniofacial complications of Beckwith Wiedemann syndrome. Plast Reconstr Surg 1995;96: 27
  11. Siddiqui A, Pensler JM. The efficacy of tongue resection in treatment of symtomatic macroglossia in the child. Ann Plast Surg 1990;25: 14
  12. Hussain K, Cosgrove KE, Shepherd RM, Luharia A, Smith VV, Kassem S. Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels. J Clin Endocrinol Metab 2005; 90: 4376-82
  13. DeBaun MR, King AA, White N. Hypoglycemia in Beckwith-Wiedemann syndrome. Semin Perinatol 2000;24: 164-71
  14. Fukuzawa R, Umezawa A, Morikawa Y, Kim KC, Nagai T, Hata J. Nesidioblastosis and mixed hamartoma of the liver in Beckwith-Wiedemann syndrome: case study including analysis of H19 methylation and insulin-like growth factor 2 genotyping and imprinting. Pediatr Dev Pathol 2001;4: 381-90
  15. Chen CP, Lin SP, Hwu YM, Chang TY, Wang W. Prenatal identification