DOI: 10.1148/radiol.2242010266
(Radiology 2002;224:375-378.)
© RSNA, 2002
Case 49: Beckwith-Wiedemann Syndrome1
Colleen O’Connor, BA and
Deborah Levine, MD
1 From the Department of Radiology, Beth Israel Deaconess Medical Center, 330 Brookline Ave, Boston, MA 02215. Received January 4, 2001; revision requested February 14; revision received March 5; accepted March 16. Address correspondence to D.L. (e-mail: dlevine@caregroup.harvard.edu).
Index terms: Diagnosis Please • Fetus, US, 856.1298 • Placenta, US, 857.1298
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HISTORY
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A 28-year-old woman was examined at 22 weeks gestation because of an abnormality depicted on an ultrasonographic (US) scan obtained at another institution. US scans (Figs 1, 2) were obtained at presentation. Three weeks later, US (Figs 3–5) was performed. Biometry showed that fetal head size and femur length were appropriate for gestational age and that appropriate growth of these structures occurred in the interval between the two examinations.
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Figure 1. Transverse US scan of the fetal abdomen at 22 weeks gestational age shows an anterior abdominal wall mass (straight arrow). A small portion of the covering membrane (curved arrow) is visualized.
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Figure 4. Sagittal US scan of the fetus at 25 weeks gestational age shows the membrane (open arrow) covering the anterior abdominal wall defect with ascites internally (a) outlining bowel loops (solid arrows).
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Figure 5. Sagittal US scan of the placenta at 25 weeks gestational age demonstrates a placental thickness of approximately 10 cm (scale at right) and at least five cystic spaces, one of which is labeled (c).
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IMAGING FINDINGS
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Fetal US scans at 22 and 25 weeks gestational age demonstrate a well-defined membrane-covered anterior abdominal wall defect at the central region of the cord insertion site, a finding that is consistent with an omphalocele (Figs 1, 3, 4). Ascites is seen between bowel loops and the covering membrane in Figure 4. Note that the membrane of peritoneum is outlined by the ascites internally and by amniotic fluid externally. An important additional US finding is a large cystic placenta (Figs 2, 5). In Figure 2, the centimeter markers at the side of the image document a thickness of at least 5 cm. In Figure 5, the placental thickness is approximately 10 cm. At least one cyst is present in the placenta in Figure 2, and at least five cysts are present in the placenta in Figure 5.
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DISCUSSION
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Omphalocele occurs in about one in 4,000 births. It is a midline defect of the anterior abdominal wall in which there is herniation of the abdominal contents into the base of the umbilical cord. The herniated mass is covered by peritoneum and amnion (1). The umbilical cord inserts onto the sac rather than in the abdominal wall as in gastroschisis. Omphalocele is associated with other anomalies in up to 88% of cases (2). Chromosome anomalies occur in up to 54% in prenatal series (3). The anomaly is usually detected during routine US or during screening because of an elevated 
-fetoprotein level. The diagnosis of omphalocele is determined on the basis of the demonstration of an anterior midline mass of the abdominal wall. This mass contains the herniated viscera (most commonly bowel and/or liver) and has a smooth surface.
The finding of placentomegaly with large cystic spaces is the key to making the correct diagnosis of Beckwith-Wiedemann syndrome (BWS) in this case. As a rule, the placenta should be approximately equal in thickness (in millimeters) to the gestational age in weeks ± 10 mm (4). A placental thickness of 10 cm, as in this case, is markedly abnormal. The cystic spaces in the markedly thickened placenta limit the differential diagnosis to conditions that cause heterogeneous placentomegaly, such as partial mole or mesenchymal dysplasia associated with normal chromosomes (5,6). Placental hemorrhage can give the appearance of heterogeneous placentomegaly but would not be expected to have the well-defined cysts observed in this case.
The US appearance of the placenta in this case is similar to that which occurs with partial molar pregnancy and with triploidy. While triploidy can be associated with omphalocele, there typically are other findings of growth restriction and oligohydramnios. In addition, other organ systems are generally involved with abnormalities of the limbs, central nervous system, cardiovascular system, and genitourinary system (7,8). Mesenchymal dysplasia with normal chromosomes and omphalocele not associated with BWS has been reported (9). However, the diagnosis of mesenchymal dysplasia and omphalocele unassociated with BWS is much less likely than the combination of findings being due to BWS. Hydrops of the stem villi with placentomegaly but with a normal trophoblast has been observed in cases of BWS (5,6,10).
BWS is a congenital overgrowth disorder. The syndrome was first described by Beckwith in 1963 (11) and Wiedemann in 1964 (12). The syndrome is characterized by omphalocele, macroglossia, gigantism, neonatal hypoglycemia, hemihypertrophy, hepatosplenomegaly, nephromegaly, cardiac anomalies, adrenal cytomegaly, pancreatic islet cell hyperplasia, facial nevus flammeus, and ear lobe creases. There is a high risk (about 10%) of development of embryonal neoplasms, particularly Wilms tumor (13) in the child with BWS, especially those with hemihypertrophy.
BWS has an incidence of one in every 37,000 live births (14). Although 85% of cases are sporadic (15), there is also an inherited form, which has autosomal dominant inheritance with imprinting on the short arm of chromosome 11 (16,17). The common in utero findings are omphalocele, macrosomia, macroglossia, and polyhydramnios (14,15,18–26). Placental changes include a thick sometimes cystic placenta (6,10,27).
The patient had a another child prior to this one with a prenatally diagnosed omphalocele and a thick placenta. At birth, a diagnosis of BWS was determined on the basis of macroglossia, omphalocele, ear lobe creases, nevus flammeus, and epicanthal folds. At the time the diagnosis was determined in the first child, the parents were examined. The mother was thought to have a possible mild form of BWS with macroglossia, and she had problems with swallowing as a child and leg length discrepancy.
In this case, the combination of omphalocele and enlarged cystic placenta makes the diagnosis of BWS most likely.
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FOOTNOTES
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Part 1 of this case appeared 4 months previously and may contain larger images.
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REFERENCES
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- Gilbert WM, Nicolaides KH. Fetal omphalocele: associated malformations and chromosomal defects. Obstet Gynecol 1987; 70:633-635.[Abstract/Free Full Text]
- Harris RD, Alexander RD. Ultrasound of the placenta and umbilical cord. In: Callen PW, eds. Ultrasonography in obstetrics and gynecology. Philadelphia, Pa: Saunders, 2000; 597-625.
- Jauniaux E, Nicolaides KH, Hustin J. Perinatal features associated with placental mesenchymal dysplasia. Placenta 1997; 18:701-706.[CrossRef][Medline]
- Lage JM. Placentomegaly with massive hydrops of placental stem villi, diploid DNA content, and fetal omphaloceles: possible association with Beckwith-Wiedemann syndrome. Hum Pathol 1991; 22:591-597.[CrossRef][Medline]
- Mittal TK, Vujanic GM, Morrissey BM, Jones A. Triploidy: antenatal sonographic features with post-mortem correlation. Prenat Diagn 1998; 18:1253-1262.[CrossRef][Medline]
- Jauniaux E. Partial moles: from postnatal to prenatal diagnosis. Placenta 1999; 20:379-388.[CrossRef][Medline]
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- 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, Los Angeles 1963.
- Wiedemann HR. Complexe malformatif familial avec hernie ombilicale et macroglossie: un "syndrome nouveau"? J Genet Hum 1964; 13:223-232.[Medline]
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- Ping AJ, Reeve AE, Law DJ, Young MR, Boehnke M, Feinberg AP. Genetic linkage of Beckwith-Wiedemann syndrome to 11p15. Am J Hum Genet 1989; 44:720-723.[Medline]
- Richard CW, III, Boehnke M, Berg DJ, 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; 52:915-921.[Medline]
- Weinstein L, Anderson C. In utero diagnosis of Beckwith-Wiedemann syndrome by ultrasound. Radiology 1980; 134:474.[Free Full Text]
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Our congratulations to the 47 individuals who submitted the most likely diagnosis (Beckwith-Wiedemann syndrome) for Diagnosis Please, Case 49. Credit was given only if Beckwith-Wiedemann syndrome was mentioned. The names and locations of the individuals, as submitted, are as follows:
- Okan Akinci, MD, Haydarpasa, Istanbul, Turkey
- Albert J. Alter, Madison, Wis
- Arangasamy Anbarasu, MD, FRCR, Coventry, England
- Richard A. Barth, MD, Stanford, Calif
- Beryl Benacerraf, MD, Boston, Mass
- Mahmut Beser, MD, Kad
koy, Istanbul, Turkey
- Jeffrey Black, Lafayette, Calif
- Michael P. Buetow, MD, Okemos, Mich
- Dr. Mariano Ricardo Carballo, San Rafael, Mendoza, Argentina
- James W. Cole, MD, Cincinnati, Ohio
- Kemal Demir, MD, Ataköy, Istanbul, Turkey
- Shella Farooki, MD, Dublin, Ohio
- Mary C. Frates, MD, Boston, Mass
- Douglas Gardner, Windsor, Ontario, Canada
- Christine M. Glastonbury, MD, San Francisco, Calif
- Flavius Guglielmo, MD, Basking Ridge, NJ
- Waleed Ibrahim, MD, Detroit, Mich
- Vinay Jain, Pontiac, Mich
- Hirotsugu Kado, Fukui, Echizen, Japan
- Eric Kinder, MD, Stanford, Calif
- Mitchell A. Klein, MD, Milwaukee, Wis
- Jeffrey Kuo, Silver Spring, MD
- Mark L. Kutler, MD, Dallas, Tex
- N. B. S. Mani, MD, Chandigarh, India
- Manabu Minami, MD, Tokyo, Japan
- Carlos J. Nassar, MD, Humacao, Puerto Rico
- Sanford M. Ornstein, MD, Phoenix, Ariz
- Harish Panicker, MD, Detroit, Mich
- Narendrakumar P. Patel, MD, Newburgh, NY
- Satya Sairam, Hyderabad, India
- Steven M. Schultz, MD, Fort Worth, Tex
- Anthony J. Scuderi, MD, Johnstown, Pa
- Matt Shapiro, MD, Lowell, Mass
- Paolo Siotto, MD, Cagliari, Italy
- Darrin S. Smith, MD, Tulare, Calif
- Wing H. Tam, MD, Windsor, Ontario, Canada
- Douglas L. Teich, MD, Brookline, Mass
- Alejandro Tempra, MD, Mar del Plata, Argentina
- Shendee Teng, MD, Los Angeles, Calif
- John S. To, MD, Iron Mountain, Mich
- Gustavo Triana, Santa Fe de Bogota, Colombia
- Herminia Tyminski Al-Saffar, MD, Manama, Kingdom of Bahrain
- Christopher Vittore, MD, Rockford, Ill
- Zhen J. Wang, MD, Hockessin, Del
- Carlos Yarke, MD, Mar del Plata, Argentina
- Benjamin M. Yeh, MD, San Francisco, Calif
- Joe Yut, Olathe, Kan
There were four individuals who submitted the highest number of most likely diagnoses for cases 37–48. The names of these people will be announced in an upcoming issue of the Journal.
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HISTORY
IMAGING FINDINGS
