Peculiar footprints in a child with agenesis of corpus callosum

2021 ◽  
Vol 57 (3) ◽  
pp. 450-451
Author(s):  
Gerarda Cappuccio ◽  
Rita Genesio ◽  
Piero Pignataro ◽  
Nicola Brunetti‐Pierri
Keyword(s):  
Corpus Callosum ◽  
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.

Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature

2005 ◽  
Vol 48 (2) ◽  
pp. 199-206 ◽  
Author(s):  
Joris Andrieux ◽  
Louise Devisme ◽  
Anne-Sylvie Valat ◽  
Yann Robert ◽  
Chrystele Frnka ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Corpus Callosum ◽  
Ring Chromosome ◽  
Chromosome 6 ◽  
Cerebellar Hypoplasia ◽  
Review Of The Literature ◽  
Agenesis Of Corpus Callosum ◽  
Ring Chromosome 6

scholarly journals P05.11: 3D ultrasound in complete agenesis of corpus callosum

2009 ◽  
Vol 34 (S1) ◽  
pp. 195-195
Author(s):  
M. Wiechec ◽  
A. Nocun
Keyword(s):  
Corpus Callosum ◽  
3D Ultrasound ◽  
Agenesis Of Corpus Callosum

Antenatal Sonographic Findings of Agenesis of Corpus Callosum

1994 ◽  
pp. 63-67
Author(s):  
Patrizia Vergani ◽  
Nicola Strobelt
Keyword(s):  
Corpus Callosum ◽  
Agenesis Of Corpus Callosum

scholarly journals Moebius syndrome with Dandy-Walker variant and agenesis of corpus callosum

2013 ◽  
Vol 8 (3) ◽  
pp. 210 ◽  
Author(s):  
JomolSara John ◽  
R Vanitha
Keyword(s):  
Corpus Callosum ◽  
Moebius Syndrome ◽  
Agenesis Of Corpus Callosum

scholarly journals The combination of thermal dysregulation and agenesis of corpus callosum: Shapiro′s or/and reverse Shapiro′s syndrome

2013 ◽  
Vol 16 (4) ◽  
pp. 716 ◽  
Author(s):  
Yasemin Topcu ◽  
Erhan Bayram ◽  
Pakize Karaoglu ◽  
Uluc Yis ◽  
SemraHiz Kurul
Keyword(s):  
Corpus Callosum ◽  
Agenesis Of Corpus Callosum
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