Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal Cases

被引：2

作者：

Beaufrere, Aurelie ^{[1
]}

Bonniere, Maryse ^{[1
]}

Tantau, Julia ^{[2
]}

Roth, Philippe ^{[3
]}

Schaefer, Elodie ^{[2
]}

Brioude, Frederic ^{[4
]}

Netchine, Irene ^{[4
]}

Bessieres, Bettina ^{[1
]}

Gelot, Antoinette ^{[5
]}

Vekemans, Michel ^{[1
]}

Razavi, Ferechte ^{[1
]}

Heron, Delphine ^{[2
]}

Attie-Bitach, Tania ^{[1
,6
]}

机构：

[1] Hop Necker Enfants Malad, AP HP, Serv Histol Embryol Cytogenet, Unite Embryofoetopathol, Paris, France

[2] Hop Trousseau, AP HP, Dept Genet Med, Paris, France

[3] Hop Necker Enfants Malad, AP HP, Serv Gynecol Obstet, Paris, France

[4] Hop Trousseau, AP HP, Serv Explorat Fonctionnelles Endocriniennes, Paris, France

[5] Hop Trousseau, AP HP, Serv Anat & Cytol Pathol, Paris, France

[6] Univ Paris 05, Inst Imagine, INSERM U1163, Paris, France

来源：

FETAL AND PEDIATRIC PATHOLOGY | 2018年 / 37卷 / 06期

关键词：

Beckwith-Wiedemann syndrome; omphalocele; corpus callosum abnormalities; short femurs; MALFORMATION; ASSOCIATION;

D O I：

10.1080/15513815.2018.1520942

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Introduction: Beckwith-Wiedemann syndrome (BWS) is the most common overgrowth syndrome. Clinical features are highly variable, including occasional posterior fossa malformations but no femoral shortening. Case report: We report two fetuses with BWS associated with short femurs and corpus callosum hypoplasia. Case 2 was growth restricted. BWS was confirmed by molecular studies showing a loss of methylation at ICR2 at 11p15 chromosomic region in case 1 and a gain of methylation at ICR1 and a loss of methylation at ICR2 locus in case 2. Conclusion: Although the phenotype and the genotype of BWS is now well-known, the presence of corpus callosum abnormalities and short femurs expand the phenotypic spectrum of the disorder.

引用

页码：411 / 417

页数：7

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