scholarly journals Fetal and Postnatal Imaging in Segmental Callosal Agenesis

2020 ◽  
Author(s):  
Elizabeth George
Keyword(s):  
Callosal Agenesis

Anterior callosal agenesis in mild, lobar holoprosencephaly

1995 ◽  
Vol 25 (5) ◽  
pp. 385-386 ◽  
Author(s):  
R. N. Sener
Keyword(s):  
Callosal Agenesis

The effects of total and partial callosal agenesis on the development of paw preference performance in the BALB/cCF mouse

1991 ◽  
Vol 545 (1-2) ◽  
pp. 123-130 ◽  
Author(s):  
Sergio L. Schmidt ◽  
Alex C. Manha˜es ◽  
Viviane Z. de Moraes
Keyword(s):  
Callosal Agenesis ◽  
Paw Preference

scholarly journals Fetal development of the corpus callosum: Insights from a 3T DTI and tractography study in a patient with segmental callosal agenesis

2016 ◽  
Vol 29 (5) ◽  
pp. 323-325 ◽  
Author(s):  
Elisa Scola ◽  
Ida Sirgiovanni ◽  
Sabrina Avignone ◽  
Claudia Maria Cinnante ◽  
Riccardo Biffi ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Fetal Development ◽  
Callosal Agenesis

scholarly journals Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

2020 ◽  
Vol 09 (04) ◽  
pp. 258-262
Author(s):  
Siulan Vendramini-Pittoli ◽  
Rosana Maria Candido-Souza ◽  
Rodrigo Gonçalves Quiezi ◽  
Roseli Maria Zechi-Ceide ◽  
Nancy Mizue Kokitsu-Nakata ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Gene Deletion ◽  
System Development ◽  
Clinical Findings ◽  
Nervous System Development ◽  
Central Nervous System Development ◽  
Callosal Agenesis ◽  
Agenesis Of Corpus Callosum ◽  
Skin Defects ◽  
Genitourinary Anomalies

AbstractThe authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis of corpus callosum, cleft palate, enamel defects, and genitourinary anomalies, which are rarely reported within the clinical spectrum of MLS. The 11,5 Mb deletion in Xp22.3p22.2 observed in the patient includes the entire HCCS gene (responsible for the MLS phenotype) and also encompasses several other genes involved with behavioral phenotypes, craniofacial and central nervous system development such as MID1, NLGN4X, AMELX, ARHGAP6, and TBL1X. The whole clinical features of our proband possibly represents an unusual MLS syndromic phenotype caused by an Xp22.3p22.2 continuous gene deletion.

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