Cerebellum Enlargement and Corpus Callosum Agenesis: A Longitudinal Case Report

2011 ◽  
Vol 26 (6) ◽  
pp. 756-760 ◽  
Author(s):  
Anna Pichiecchio ◽  
Carol Di Perri ◽  
Sergio Arnoldi ◽  
Angela Berardinelli ◽  
Vincenzo Branca ◽  
...  
Keyword(s):  
Case Report ◽  
Corpus Callosum ◽  
Corpus Callosum Agenesis

scholarly journals Partial corpus callosum agenesis and colpocephaly: a case report

2016 ◽  
Vol 10 (3) ◽  
pp. 242-245 ◽  
Author(s):  
Ayşegül Güngör Aydın ◽  
Esat Adıgüzel ◽  
Aylin Aksoy ◽  
Kemalettin Acar
Keyword(s):  
Case Report ◽  
Corpus Callosum ◽  
Corpus Callosum Agenesis

scholarly journals Corpus Callosum Agenesis - A Case Report

2000 ◽  
Vol 23 (2) ◽  
pp. 37-39
Author(s):  
N. Pfizer ◽  
E. Mohan Das
Keyword(s):  
Case Report ◽  
Corpus Callosum ◽  
Corpus Callosum Agenesis

Sturge-Weber Syndrome with Corpus Callosum Agenesis-A Case Report

2011 ◽  
Vol 60 (2) ◽  
pp. 239-241
Author(s):  
C. Mohanty ◽  
Krishna Pandey ◽  
Rajniti Prasad ◽  
B.K. Das ◽  
Gajendra Singh ◽  
...  
Keyword(s):  
Case Report ◽  
Corpus Callosum ◽  
Corpus Callosum Agenesis ◽  
Weber Syndrome ◽  
Sturge Weber Syndrome

scholarly journals A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia

2020 ◽  
Author(s):  
Tibor Kalmár ◽  
Katalin Szakszon ◽  
Zoltán Maróti ◽  
Alíz Zimmermann ◽  
Adrienn Máté ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Corpus Callosum ◽  
Exome Sequencing ◽  
Gene Mutations ◽  
Brain Malformation ◽  
Pontocerebellar Hypoplasia ◽  
Gene Set ◽  
Corpus Callosum Agenesis

AbstractMicrolissencephaly is a brain malformation characterized by microcephaly and extremely simplified gyral pattern. It may be associated with corpus callosum agenesis and pontocerebellar hypoplasia. In this case report, we described two siblings, a boy and a girl, with this complex brain malformation and lack of any development. In the girl, exome sequencing of a gene set representing 4,813 genes revealed a homozygous AG deletion in exon 7 of the WDR81 gene, leading to a frameshift (c.4668_4669delAG, p.Gly1557AspfsTer16). The parents were heterozygous for this mutation. The boy died without proper genetic testing. Our findings expand the phenotypic and genotypic spectrum of WDR81 gene mutations.

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