Abnormally Large Placenta Associated with Beckwith-Wiedemann Syndrome

Takayama, Makoto; Soma, Hiroaki; Yaguchi, S; Funayama, Hitoshi; Fujiwara, Kumiko; Irie, Hidekazu; Yamabe, Shizuko

doi:10.1159/000298909

Cited by 50 publications

(26 citation statements)

References 3 publications

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“…Of the 110 cases reviewed, 16 (14.5%) were associated with BWS [2,3,4,5,6,7,8,9,10], 33 (30.0%) had evidence of fetal growth restriction [4,11,12,13,14,15,16,17,18,19,20,21,22,23,24,41,46,48] as in the current case, and 28 (25.5%) ended in intrauterine fetal death [4,6,7,8,12,13,15,16,17,18,25,26,45,47]. There is a female preponderance in cases of PMD; of the infant data reviewed, there were 78 females and 19 males.…”

Section: Resultsmentioning

confidence: 99%

“…Of the 110 cases reviewed, 44 cases of PMD showed multicystic placenta in antenatal ultrasound scan [1,2,3,5,7,9,10,11,12,13,16,18,19,20,22,23,26,27,28,29,30,31,32,33,34,41,42,43,44,45,46,47,48]. Figure 5 represents the gestational age at which the multicystic pattern was identified in the 44 cases and the current case.…”

Section: Resultsmentioning

confidence: 99%

“…Another characteristic feature of PMD is aneurismal and varicose dilation of fetal chorionic vessels. Of the 110 cases reviewed, 48 cases of PMD presented data of dilation of fetal chorionic vessels [2,3,9,11,12,13,14,15,17,18,20,21,22,23,24,26,34,35,36,40,41,44,45,46,47,48]. Figure 6 represents the gestational age when aneurismal and varicose dilation of chorionic vessels were identified in the 48 cases and the current case.…”

Section: Resultsmentioning

confidence: 99%

“…All articles without an abstract or with unavailable full text were excluded. We identified 49 articles including 110 cases of PMD [1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49]. …”

Section: Literaturementioning

confidence: 99%

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Placental Mesenchymal Dysplasia: Chronological Observation of Placental Images during Gestation and Review of the Literature

Ohira¹,

Ookubo²,

Tanaka³

et al. 2013

Gynecol Obstet Invest

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Placental mesenchymal dysplasia (PMD) is characterized by multiple hypoechoic vesicles which are similar to molar changes in the placenta; however, the process of such morphological changes of PMD during pregnancy has not been fully understood. We performed a review of all PMD cases published in English and identified 49 articles including 110 cases. With regard to the gestational age at which the multicystic pattern was seen,approximately 70% of cases were diagnosed at 13-20 weeks of gestation. Another characteristic feature of PMD is varicose dilation of fetal chorionic vessels. As many as 90% of cases were diagnosed as placenta with dilated fetal chorionic vessels in the third trimester. We also report a case of PMD which was found at 10 weeks of gestation according to ultrasonic molar patterns. Serial observations of the placenta using ultrasound and magnetic resonance imaging revealed that multicystic lesions became smaller after 23 weeks. In contrast, dilated placental vessels on the fetal side became apparent at 38 weeks. The present review highlights that placental vesicular lesions of PMD may precede dilation of fetal chorionic vessels during pregnancy. It also indicates the potential of a gradual reduction in size of PMD's placental vesicular lesions by serial study of placental images.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Literaturementioning

confidence: 99%

See 2 more Smart Citations

Placental Mesenchymal Dysplasia: Chronological Observation of Placental Images during Gestation and Review of the Literature

Ohira¹,

Ookubo²,

Tanaka³

et al. 2013

Gynecol Obstet Invest

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“…Statistical and regression analyses of growth curve Data were compiled from original reports or reviews of nonoverlapping cases of BWS (Filipi and McKusick 1970;Sotelo-Avila and Singer 1970;Thorburn et al 1970;Kosseff et al 1976;Greenwood et al 1977;Shapiro et al 1982;McManamny and Barnett 1985;Niikawa et al 1986;Pettenati et al 1986;Takayama et al 1986;Takato et al 1989;Weng et al 1995b;Martínez y Martínez 1996) and SGBS (Simpson et al 1975;Behmel et al 1984Behmel et al , 1988Golabi and Rosen 1984;Opitz 1984;Tsukahara et al 1984;Neri et al 1988;Opitz et al 1988;Kö nig et al 1991;Garganta and Bodurtha 1992;Gurrieri et al 1992;Hughes-Benzie et al 1992a, 1996Chen et al 1993;Yamashita et al 1995). The frequency of occurrence of each manifestation (number of patients exhibiting a clinical feature as a fraction of total examined) is only indicative because of incomplete records.…”

Section: Somatic Overgrowth and Placentomegalymentioning

confidence: 99%

Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith–Wiedemann and Simpson–Golabi–Behmel syndromes

Eggenschwiler¹,

Ludwig²,

Fisher³

et al. 1997

Genes Dev.

310

212

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In mice, the imprinted Igf2 gene (expressed from the paternal allele), which encodes a growth-promoting factor (IGF-II), is linked closely to the reciprocally imprinted H19 locus on chromosome 7. Also imprinted (expressed from the maternal allele) is the Igf2r gene on chromsome 17 encoding the type 2 IGF receptor that is involved in degradation of excess IGF-II. Double mutant embryos carrying a deletion around the H19 region and also a targeted Igf2r allele, both inherited maternally, have extremely high levels of IGF-II (7-and 11-fold higher than normal in tissues and serum, respectively) as a result of biallelic Igf2 expression (imprint relaxation by deletion of H19-associated sequence) in combination with lack of the IGF2R-mediated IGF-II turnover. This excess of IGF-II causes somatic overgrowth, visceromegaly, placentomegaly, omphalocele, and cardiac and adrenal defects, which are also features of the Beckwith-Wiedemann syndrome (BWS), a genetically complex human disorder associated with chromosomal abnormalities in the 11p15.5 region where the IGF2 gene resides. In addition, the double mutant mouse embryos exhibit skeletal defects and cleft palate, which are manifestations observed frequently in the Simpson-Golabi-Behmel syndrome, another overgrowth disorder overlapping phenotypically, but not genetically, with BWS.

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Apparent postnatal onset of some manifestations of the Wiedemann‐Beckwith syndrome

et al. 1990

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We report on 2 patients who were apparently normal at birth but later developed characteristics of Wiedemann-Beckwith syndrome (WBS). Both had hypoglycemia neonatally and gradually developed coarse facial changes, umbilical hernia, and macroglossia. Renal sonography done after the macroglossia developed showed large kidneys in both. The placentas were carefully examined in both cases but findings described as typical of WBS were only found in one. The clinical evolution of these infants suggests that some WBS manifestations may have their onset postnatally in some cases. We postulate that the cellular hyperplasia and hypertrophy characteristic of WBS may be caused by persistent rests of embryonal cells that secrete paracrine and/or endocrine growth factors.

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Abnormally Large Placenta Associated with Beckwith-Wiedemann Syndrome

Cited by 50 publications

References 3 publications

Placental Mesenchymal Dysplasia: Chronological Observation of Placental Images during Gestation and Review of the Literature

Placental Mesenchymal Dysplasia: Chronological Observation of Placental Images during Gestation and Review of the Literature

Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith–Wiedemann and Simpson–Golabi–Behmel syndromes

Apparent postnatal onset of some manifestations of the Wiedemann‐Beckwith syndrome

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