The Pre and Postnatal Appearance of the Kidneys in Beckwith‐Wiedemann Syndrome

Carseldine, David B.; Crocker, Ernest F.; Walker, Anthony G.; Trudinger, Brian J.

doi:10.1111/j.1440-1673.1983.tb02338.x

Cited by 8 publications

(4 citation statements)

References 6 publications

(1 reference statement)

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“…Previous reports have suggested that the prenatal diagnosis of BWS can be made in the midtrimester of pregnancy by ultrasonographic findings that include macrosomia, macroglossia, omphalocele, polyhydramnios, increased abdominal circumference, kidney to abdominal circumference ratio, and renal or liver enlargement (Carseldine et al, 1983;Grundy et al, 1985;Cobellis et al, 1988;Lodeiro et al, 1989;Viljoen et al, 1991). While exomphalos complicates about half of the cases of BWS and will usually be picked up on prenatal ultrasonography, BWS is actually a rare cause of exomphalos and is seen in less than 3% of all cases (Baird and MacDonald, 1981).…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of Beckwith–Wiedemann syndrome

2005

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Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of Beckwith–Wiedemann syndrome

2005

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“…By using ultrasound equipment they noted increased amniotic fluid, bilateral cystic kidneys and a larger than expected fetus in a routine examination of a pregnancy at 20 weeks gestation. Carseldine et al [14] and Grundy et al [25] have described characteristic renal changes in WBS as judged by ultrasound examination. The final diagnosis of WBS was revealed at delivery.…”

Section: Prenatal Diagnosismentioning

confidence: 99%

“…It has also been proposed that the medullary sponge kidneys may be involved in the development of hypertension in WBS patients [82]. More recently, ultrasound techniques have been in frequent use to screen for kidney anomalies in WBS patients [14,51,70]. A histopathological finding which has been reported repeatedly in the WBS and described under various designations, e.g.…”

Section: Visceromegalymentioning

confidence: 99%

Wiedemann-beckwith syndrome

1988

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The Wiedemann-Beckwith syndrome (WBS) comprises an accumulation of multiple congenital anomalies. Exomphalos, macroglossia and gigantism are considered the most common manifestations, hence the alternative designation EMG-syndrome. The syndrome carries with it an increased risk of developing specific tumours. One of the more frequent metabolic changes is transient neonatal hypoglycaemia, the result of increased insulin secretion. Inheritance of the syndrome remains uncertain. Most cases are sporadic, but a number of familial cases have been reported. Present evidence suggests that WBS is an autosomal dominant trait with variable expressivity. This review summarizes the abundant literature on the subject and discusses recent molecular genetic developments that may explain the interrelationship between the clinical abnormalities, metabolic disturbances and development of tumours.

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“…Addition· al associated anomalies include renal, pancreatic islet cell, adrenocortical, and gonadal interstitial cell hy· perplasia, renal medullary dysplasia, facial nevus flammeus, ear lobe creases and mild microcephaly.t.3,5,1U6,17 Neonatal hypoglycemia, hemihypertrophy, and an increased predisposition to develop childhood embryonal neoplasms also are described frequently.1. [3][4][5]7,11,14,16 The prenatal diagnosis of BWS is important as it can alert both the obstetrician and the pediatrician to potential birth and perinatal complications. A 21% neonatal mortality rate has been reported as a result of dystocia, neonatal hypoglycemia, seizures, and cardiac failure.…”

Section: Discussionmentioning

confidence: 99%