Results 31 to 40 of about 14,149 (242)

A Late Onset of Adrenocortical Cancer Assosiated with Beckwith-Wiedemann Syndrome

Эндокринная хирургия, 2014
Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder involving a predisposition to tumor development. The common features of Beckwith-Wiedemann syndrome include omphalocele, macroglos- sia and macrosomia. The increased risk for neoplasia is
N S Kuznetsov, N V Latkina, N Yu Kalinchenko, L S Selivanova, A O Raykhman   +4 more
doaj   +1 more source

Multiple Haemangiomas, Diaphragmatic Eventration and Beckwith-Wiedemann Syndrome: An Unusual Association [PDF]

, 2013
A 6-month-old girl with Beckwith-Wiedemann syndrome, multiple haemangiomas (axillary, laryngeal, pulmonary and hepatic) and diaphragmatic eventration was reported. All tumours responded to treatment with propranolol.
Borges, C, Francisco, T, Gonçalves, RM, Neto, MT   +3 more
core   +1 more source

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

Nature Reviews Endocrinology, 2018
Beckwith–Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to ...
F. Brioude, J. Kalish, A. Mussa, A. Foster, J. Bliek, G. Ferrero, S. E. Boonen, T. Cole, R. Baker, M. Bertoletti, G. Cocchi, C. Coze, M. Pellegrin, K. Hussain, A. Ibrahim, M. Kilby, M. Krajewska-Walasek, C. Kratz, E. Ladusans, P. Lapunzina, Y. Bouc, S. Maas, F. Macdonald, K. Õunap, L. Peruzzi, S. Rossignol, S. Russo, C. Shipster, A. Skórka, K. Tatton-Brown, J. Tenorio, C. Tortora, K. Grønskov, I. Netchine, R. Hennekam, D. Prawitt, Z. Tümer, T. Eggermann, D. Mackay, A. Riccio, E. Maher   +40 more
semanticscholar   +1 more source

46,XX ovotesticular disorder in a Mexican patient with Beckwith–Wiedemann syndrome: a case report

Journal of Medical Case Reports, 2012
Introduction Beckwith–Wiedemann syndrome is an overgrowth syndrome that is characterized by hypoglycemia at birth, coarse face, hemihypertrophy and an increased risk to develop embryonal tumors.
Macías-Gómez Nelly, Leal-Ugarte Evelia, Gutiérrez-Angulo Melva, Domínguez-Quezada Guadalupe, Rivera Horacio, Barros-Núñez Patricio   +5 more
doaj   +1 more source

OUTPATIENT MANAGEMENT OF A PATIENT WITH BECKWITHWIEDEMANN SYNDROME (CASE REPORT)

Медицинский совет, 2017
Beckwith - Wiedemann syndrome (ICD-10 code: Q 87.3) is a congenital disease characterized by macrosomia, macroglossia, hernia umbilical cord, overgrowth in the first few years of life, asymmetry of the body and a predisposition to embryonal tumor ...
E. A. Kashirina, A. A. Rubtsova, N. M. Yugai, O. B. Karabanova, O. V. Chernokozheva, S. G. Zagidullina   +5 more
doaj   +1 more source

A Case of BeckwithWiedemann Syndrome with Polyhydramnios

Indonesian Journal of Obstetrics and Gynecology, 2017
Objective: To report a rare case of Beckwith-Wiedemann Syndrome with polyhydramnios. Methods: Reporting a case of Beckwith-Wiedemann syndrome with polyhydramnios. Results: Case of Mrs. Y, 27 years old woman, G2P1A0L1 preterm pregnancy (30-31 weeks)
Yusrawati Yusrawati, Reno Muhatiah
doaj   +1 more source

The Utility of Early Tongue Reduction Surgery for Macroglossia in Beckwith-Wiedemann Syndrome

Plastic and Reconstructive Surgery, 2020
Supplemental Digital Content is available in the text. Background: Macroglossia, a cardinal feature of the (epi)genetic disorder Beckwith-Wiedemann syndrome, is associated with obstructive sleep apnea, speech and/or feeding difficulties, and dental or ...
Jennifer L. Cohen, C. Cielo, Jonida Kupa, K. Duffy, Evan R Hathaway, J. Kalish, Jesse A. Taylor   +6 more
semanticscholar   +1 more source

Perioperative Management of a Pediatric Patient with Beckwith–Wiedemann Syndrome Undergoing a Partial Glossectomy According to Egyedi/Obwegeser

Children, 2023
Here, we report the perioperative management of a clinical case of a 6 year, 5 month old girl suffering from Beckwith–Wiedemann syndrome undergoing a partial glossectomy procedure in a patient with surgical indication for obstructive sleep apnea syndrome
Antonio Izzi, Vincenzo Marchello, Aldo Manuali, Lazzaro Cassano, Andrea Di Francesco, Annalisa Mastromatteo, Andreaserena Recchia, Maria Pia Tonti, Grazia D’Onofrio, Alfredo Del Gaudio   +9 more
doaj   +1 more source

Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report. [PDF]

, 2019
BACKGROUND: The vast majority of cases with Beckwith-Wiedemann syndrome (BWS) are caused by a molecular defect in the imprinted chromosome region 11p15.5.
Ahangari, N, Ashrafzadeh, F, Böck, J, Donyadideh, N, Ebrahimzadeh, F, Haaf, T, Karimiani, EG, Lekszas, C, Maroofian, R, Nanda, I, Vona, B   +10 more
core   +2 more sources

Macroglossia and Beckwith-Wiedemann syndrome [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2011
Introduction. In 1963 Beckwith presented a report on the first patient with extreme cytomegaly of adrenal cortex, hyperplasia of kidneys and pancreas and Leydig cell hyperplasia.
Krasić Dragan, Radović Predrag, Burić Nikola, Krasić Dragana, Pešić Zoran, Videnović Goran   +5 more
doaj   +1 more source