scholarly journals OP06.05: The usefulness of prenatal imaging features in discovering pathogenic genomic variations in fetal agenesis of corpus callosum

2018 ◽  
Vol 52 ◽  
pp. 81-81
Author(s):  
Y. Yang ◽  
X. Chen ◽  
X. Yang ◽  
S. Zhao ◽  
W. Xia ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Imaging Features ◽  
Agenesis Of Corpus Callosum ◽  
Genomic Variations ◽  
Prenatal Imaging

Prenatal Imaging Features and Postnatal Outcome of Short Corpus Callosum: A Series of 42 Cases

2021 ◽  
Vol 48 (3) ◽  
pp. 217-226
Author(s):  
Caroline Bartholmot ◽  
Sara Cabet ◽  
Mona Massoud ◽  
Jérôme Massardier ◽  
Axel Fichez ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Developmental Disorders ◽  
Biological Data ◽  
Psychomotor Development ◽  
Global Developmental Delay ◽  
Imaging Features ◽  
Prenatal Counselling ◽  
Prenatal Imaging ◽  
Postnatal Outcome ◽  
The One

<b><i>Objectives:</i></b> Our goal was to provide a better understanding of isolated short corpus callosum (SCC) regarding prenatal diagnosis and postnatal outcome. <b><i>Methods:</i></b> We retrospectively reviewed prenatal and postnatal imaging, clinical, and biological data from 42 cases with isolated SCC. <b><i>Results:</i></b> Prenatal imaging showed SCC in all cases (<i>n</i> = 42). SCC was limited to rostrum and/or genu and/or splenium in 21 cases, involved body in 16 cases, and was more extensive in 5 cases. Indirect imaging features included typical buffalo horn ventricles (<i>n</i> = 14), septal dysmorphism (<i>n</i> = 14), parallel lateral ventricles (<i>n</i> = 12), and ventriculomegaly (<i>n</i> = 4), as well as atypical features in 5 cases. SCC was associated with interhemispheric cysts and pericallosal lipomas in 3 and 6 cases, respectively. Aneuploidy was found in 2 cases. Normal psychomotor development, mild developmental disorders, and global developmental delay were found in 70, 15, and 15% of our cases, respectively. <b><i>Conclusions:</i></b> SCC should be investigated to look for pericallosal lipoma and typical versus atypical indirect features of corpus callosum agenesis (CCA). Prenatal counselling should be guided by imaging as well as clinical and genetic context. Outcome of patients with SCC was similar to the one presenting with complete CCA.

scholarly journals Transsellar trans-sphenoidal encephalocele with cleft lip, cleft palate and agenesis of corpus callosum

2021 ◽  
Vol 16 (8) ◽  
pp. 2211-2213
Author(s):  
Prajina Pradhan ◽  
Subash Phuyal ◽  
Ritesh Lamsal ◽  
Pooja Agrawal ◽  
Raju Paudel
Keyword(s):  
Corpus Callosum ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Agenesis Of Corpus Callosum

scholarly journals A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis

2021 ◽  
Vol 8 ◽  
pp. 2329048X2110065
Author(s):  
Nesrin Şenbil ◽  
Zeynep Arslan ◽  
Derya Beyza Sayın Kocakap ◽  
Yasemin Bilgili
Keyword(s):  
Corpus Callosum ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Gene Mutations ◽  
Hirschsprung Disease ◽  
Agenesis Of Corpus Callosum ◽  
Whole Exome ◽  
Congenital Cardiac Anomalies ◽  
History Of ◽  
Gene Mutation Analysis

Mowat–Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ‘‘M’’ shaped upper lip, opened mouth and prominent chin, and developmental delay. Hence, MWS was primarily considered and confirmed by the ZEB2 gene mutation analysis. His karyotype was normal. He had a history of having a prenatally terminated brother with similar features. Antenatally detected IACC should prompt a detailed investigation including karyotype and microarray; even if they are normal then whole exome sequencing (WES) should be done.

Prenatal diagnosis and prenatal imaging features of fetal monosomy 1p36

2007 ◽  
Vol 27 (9) ◽  
pp. 874-878 ◽  
Author(s):  
D. Lissauer ◽  
S. A. Larkins ◽  
S. Sharif ◽  
L. MacPherson ◽  
C. Rhodes ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Imaging Features ◽  
Prenatal Imaging

scholarly journals Prenatal imaging features suggestive of liver gestational allo immune disease

2019 ◽  
Vol 48 (1) ◽  
pp. 61-64 ◽  
Author(s):  
Clémentine Sciard ◽  
Sophie Collardeau-Frachon ◽  
Anthony Atallah ◽  
Danièle Combourieu ◽  
Jérôme Massardier ◽  
...  
Keyword(s):  
Imaging Features ◽  
Immune Disease ◽  
Prenatal Imaging
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