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Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation
Alby, Caroline; Malan, Valérie; Boutaud, Lucile ...
Birth defects research. A Clinical and molecular teratology,
January 2016, Volume:
106, Issue:
1
Journal Article
BACKGROUND
Corpus callosum malformation (CCM) is the most frequent brain malformation observed at birth. Because CCM is a highly heterogeneous condition, the prognosis of fetuses diagnosed prenatally ...
remains uncertain, making prenatal counseling difficult.
METHODS AND RESULTS
We evaluated retrospectively a total of 138 fetuses, 117 with CCM observed on prenatal imaging examination, and 21 after postmortem autopsy. On ultrasound and/or magnetic resonance imaging, CCM was either isolated (N = 40) or associated with other neurological (N = 57) or extra cerebral findings (N = 21/20, respectively).
RESULTS
Most fetuses (N = 132) remained without a diagnosis at the time of pregnancy termination. This emphasizes the need to establish a neuropathological classification and to perform a genomic screening using comparative genomic hybridization. A neuropathological examination performed on 138 cases revealed a spectrum of CCMs, classified as follows: agenesis of corpus callosum (55), CC hypoplasia (30), CC dysmorphism (24), and CCM associated with a malformation of cortical development (29). Of interest, after fetopathological examination, only 16/40 malformations were classified as isolated, highlighting the importance of the autopsy following termination of pregnancy. Among the 138 cases, the underlying etiology was found in 46 cases: diabetes (one case), cytomegalovirus infection (one case), 23 chromosome abnormalities, and 21 mendelian conditions.
CONCLUSION
In our series of 138 cases of CCM, prenatal and postmortem examinations identified a variety of genetic causes. However, no diagnosis could be established in 67% of cases. The classification based on the underlying neurodevelopmental defects paves the way for further genetic studies and genotype‐phenotype correlations. Birth Defects Research (Part A) 106:36–46, 2016. © 2015 Wiley Periodicals, Inc.
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Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal Cases
Beaufrère, Aurélie; Bonnière, Maryse; Tantau, Julia ...
Fetal and Pediatric Pathology,
11/2/2018, Volume:
37, Issue:
6
Report
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.
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