Results 11 to 20 of about 5,018 (164)

Morphometric measurements of intraoral anatomy in children with Beckwith-Wiedemann syndrome: a novel approach [PDF]

Orphanet Journal of Rare Diseases
Background An easy-to-use tool to objectively measure intraoral anatomy with meaningful clinical correlations may improve care for patients with Beckwith-Wiedemann syndrome (BWS), who commonly have symptomatic macroglossia.
Dominic J. Romeo, Andrew M. George, Jonathan H. Sussman, Manisha Banala, Andrew Wiemken, Meagan Wu, Jinggang J. Ng, Jesse A. Taylor, Richard J. Schwab, Christopher M. Cielo, Jennifer M. Kalish   +10 more
doaj   +2 more sources

Beckwith-Wiedemann Syndrome: deciphering the genetic and clinical complexity - A case report with literature review [PDF]

Romanian Journal of Pediatrics, 2023
Beckwith-Wiedemann syndrome (BWS) is a rare and heterogeneous genetic condition characterized by overgrowth, organomegaly, and increased vulnerability to embryonal tumors.
Astrit M. Gashi, Brikene Elshani
doaj   +1 more source

Tongue Reduction Surgery Improves Mandibular Prognathism in Beckwith-Wiedemann Syndrome Without Compromising Tongue Function [PDF]

Clinical and Experimental Otorhinolaryngology, 2023
Objectives. This study evaluated the surgical outcomes of patients with Beckwith-Wiedemann syndrome who underwent tongue-reduction surgery and analyzed whether the malocclusion and mandibular prognathism caused by macroglossia could be improved. Methods.
Do Won Kim, Jeong Kyou Kim, Gene Huh, Doh Young Lee, Seong Keun Kwon   +4 more
doaj   +1 more source

The diagnosis of Beckwith-Wiedemann syndrome in a child and psychological implications to parents – A case report

Rwanda Medical Journal, 2023
INTRODUCTION: While Beckwith-Wiedemann syndrome is among rare genomic imprinting disorders, its diagnosis still presents challenges in clinical settings.
B. Tuyishimire, H. Irere, N. Dukuze, B. Iradukunda, C. Muhizi, A. Ndatinya, O. R. Karangwa, F. Rutagarama, C. Nsanzabaganwa, L. Mutesa   +9 more
doaj   +2 more sources

Functional Adrenocortical Adenoma in a Child with Beckwith–Wiedemann Syndrome

Case Reports in Pediatrics, 2021
Beckwith–Wiedemann syndrome (BWS) is a rare congenital condition characterized by complex overgrowth of different body parts. Children with Beckwith–Wiedemann syndrome, particularly those with hemihypertrophy, experience an increased risk of developing ...
Leen Jamel Doya, Naya Talal Hassan, Hanin Ahmed Mansour, Mohammad Ahmad Almahmod Alkhalil, Abdul Alrahman Almahmod Alkhalil, Nada Mansour, Alaa Abdallah   +6 more
doaj   +1 more source

Beckwith–Wiedemann syndrome [PDF]

European Journal of Human Genetics, 2009
Beckwith-Wiedemann syndrome (BWS) is a model disorder for the study of imprinting, growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an important embryonic developmental window relevant to the observations of increased monozygotic twinning and an increased rate of epigenetic errors after subfertility/assisted ...
Rosanna, Weksberg, Cheryl, Shuman, J Bruce, Beckwith   +2 more
openaire   +2 more sources

Beckwith‐Wiedemann syndrome with macroglossia as the most significant manifestation: A case report

Clinical Case Reports, 2021
Beckwith‐Wiedemann syndrome is a complex multisystem disorder that requires collaboration of medical and dental teamfor its diagnosis and management. We present a dental overview and an update of the clinical and molecular diagnoses of Beckwith‐Wiedemann
Shatha Lamfoon, Sondos Abuzinada, Ahmad Yamani, Nada Binmadi   +3 more
doaj   +1 more source

Beckwith-Wiedemann Syndrome in a Premature Dizygotic Female Twin: A Case Report

The Annals of African Surgery, 2022
Beckwith-Wiedemann Syndrome is a congenital disease that is rare and has low prevalence worldwide. It presents classically with features of macroglossia, abdominal wall defects (omphalocele), and macrosomia at birth.
George Otieno Nyakiti , Brian Odhiambo Ooro ​   +1 more
doaj   +1 more source

Hyperinsulinism and Beckwith-Wiedemann syndrome [PDF]

Archives of Disease in Childhood - Fetal and Neonatal Edition, 2001
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome first described by Beckwith in 1963.1 The incidence of BWS is about 1:13 700 births, with an equal sex distribution.2 It is a clinically and genetically heterogeneous disorder. Table 1 outlines the major clinical features.
Munns, C. F. J., Batch, J. A.
openaire   +5 more sources

Genetic syndromes associated with overgrowth in childhood [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2013
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 of specific ...
Jung Min Ko
doaj   +1 more source