Results 121 to 130 of about 5,018 (164)

Hypercalciuria in Beckwith-Wiedemann syndrome

The Journal of Pediatrics, 2003
We determined the incidence of hypercalciuria (HC) and its association with nephrocalcinosis and nephrolithiasis in 18 consecutive patients with Beckwith-Weidemann syndrome (BWS). Random, nonfasting urine samples were obtained from each patient. All patients had abdominal ultrasonography, most on several occasions. Four patients (22%) had HC. Of these,
Michael, Goldman, Cheryl, Shuman, Rosanna, Weksberg, Norman D, Rosenblum   +3 more
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Anesthesia in Beckwith–Wiedemann syndrome

Pediatric Anesthesia, 2004
SummaryAnesthetic management of a 3‐month‐old boy with Beckwith–Wiedemann syndrome for bronchoscopy is reported. Management may be complicated by a difficult airway, congenital heart disease, and hypoglycemia. We did not have difficulty in airway management either with tracheal intubation or rigid bronchoscopy, but we could not extubate the baby ...
V, Celiker, E, Basgul, A H, Karagoz
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Anaesthesia and the Beckwith‐Wiedemann syndrome

Pediatric Anesthesia, 1996
SummaryInfants with Beckwith‐Wiedeman syndrome usually present different abnormalities which may require surgical correction. Anaesthetic management may be complicated by abnormal airway anatomy, congenital heart disease and severe hypoglycaemia. Careful preoperative evaluation, perioperative monitoring and suitable choice of anaesthetic technique are ...
C, Suan, R, Ojeda, J L, García-Perla, M C, Pérez-Torres   +3 more
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Hypoglycemia in Beckwith-Wiedemann syndrome

Seminars in Perinatology, 2000
Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome associated with macrosomia, macroglossia, abdominal wall defects, hypoglycemia in the neonatal period and embryonal cancers of infancy and early childhood. The frequency of hypoglycemia in this population is between 30% and 50%.
M R, DeBaun, A A, King, N, White
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Treatment of Macroglossia in Beckwith-Wiedemann Syndrome

Journal of Craniofacial Surgery, 2006
A case of macroglossia caused by Beckwith Wiedemann syndrome is reported. Beckwith-Wiedemann Syndrome is an overgrowth disorder characterized by a constellation of congenital anomalies. The most common manifestations are omphalocele, macroglossia, gigantism, and visceromegaly.
CLAUSER, Luigi, R. Tieghi, J. Polito
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Adult experiences in Beckwith–Wiedemann syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2023
AbstractBeckwith–Wiedemann syndrome (BWS) is an overgrowth and epigenetic disorder caused by changes on chromosome 11p15. The primary features requiring management in childhood include macroglossia, omphalocele, lateralized overgrowth, hyperinsulinism, and embryonal tumors.
William A. Drust, Alessandro Mussa, Andrea Gazzin, Pablo Lapunzina, Jair Tenorio‐Castaño, Julian Nevado, Patricia Pascual, Pedro Arias, Alejandro Parra, Kelly D. Getz, Jennifer M. Kalish   +10 more
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Beckwith-Wiedemann Syndrome, Tumorigenesis and Imprinting

Current Opinion in Genetics & Development, 1992
The concurrent development of cytogenetic, clinical, genetic and molecular studies has led to the recognition that the different hereditary and non-hereditary forms of the Beckwith-Wiedemann syndrome and associated tumours result from an imbalance between maternal and paternal alleles. The most exciting development in the past year was the discovery of
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Beckwith-Wiedemann Syndrome

Journal of Maternal-Fetal and Neonatal Medicine, 1992
The Beckwith-Wiedemann syndrome (BWS) is a complex congenital disorder with omphalocele, macroglossia, and gigantism as its most common neonatal features. However, in individual cases, the phenotypic expression of this condition is variable. Antenatal diagnosis in previously unsuspected cases depends upon the identification of a number of specific ...
John P. O'grady, Carol Tunney, Solveig M.V. Pflueger, Camille M. Kanaan, Lucy Bayer-Zwirello, Martin L. Gimovsky, Thomas Carbone   +6 more
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Beckwith-Wiedemann-Syndrom

Medizinische Genetik, 2010
ZusammenfassungDas Beckwith-Wiedemann-Syndrom (BWS) ist ein pädiatrisches Überwuchssyndrom mit variablem klinischem Erscheinungsbild. Obwohl die betroffenen Kinder mit zunehmendem Alter immer normaler aussehen, ist es wichtig, die Diagnose BWS zu stellen.
D. Prawitt, T. Enklaar, B. Zabel
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[Beckwith-Wiedemann syndrome].

Nihon rinsho. Japanese journal of clinical medicine, 2000
Beckwith-Wiedemann syndrome(BWS) is one of the most common overgrowth syndrome and is believed that imprinted genes contribute to the phenotypes of syndrome. Embryonic tumors are observed in 7.5%-10.0% of BWS, so BWS could be classified in one of the familial cancer syndrome. We describe here the causative mechanisms of BWS, mechanisms of tumorigenesis
K, Yoshiura, N, Niikawa
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