Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation

2013 ◽  
Vol 35 (3) ◽  
pp. 274-279 ◽  
Author(s):  
Akihisa Okumura ◽  
Masaharu Hayashi ◽  
Hiromichi Tsurui ◽  
Yoko Yamakawa ◽  
Shinpei Abe ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Cerebellar Hypoplasia ◽  
Ventricular Dilation ◽  
Agenesis Of Corpus Callosum

Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia

2004 ◽  
Vol 107 (1) ◽  
pp. 69-81 ◽  
Author(s):  
Hajime Miyata ◽  
Dennis J. Chute ◽  
James Fink ◽  
Pablo Villablanca ◽  
Harry V. Vinters
Keyword(s):  
Corpus Callosum ◽  
Cerebellar Hypoplasia ◽  
Agenesis Of Corpus Callosum

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.

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