Corpus callosum agenesis in trisomy 8p11.23 and monosomy 4q34 because of maternal translocation
We report on a 3-year-old boy with partial trisomy 8 p11.23 -> pter and partial monosomy 4q34 -> qter, associated with developmental delay, complete agenesis of the corpus callosum, and mild dysmorphic features.
Dehgan, Tahir +3 more
core +1 more source
Patients with partial agenesis of the corpus callosum can be readily detected by magnetic resonance ...
Yemisci, MÜGE, Saygi, SERAP
core +1 more source
Mid-portion agenesis of corpus callosum in a presumed Baller-Gerold syndrome.
We report an association of trigonocephaly and thumb hypoplasia in a 6.5-year-old boy, diagnosed as Baller-Gerold syndrome. In addition to craniosynostosis and radial limb defect, which are constant in this syndrome, our patient presents two unusual ...
Van Regemorter, Nicole +6 more
core +1 more source
Agenesis of the corpus callosum associated with relapsing hypothermia: a clinico pathological report
A 41 year old man had recurrent hypothermia with loss of consciousness which eventually became permanent. There was agenesis of the corpus callosum, with no evidence of dysfunction of the hypothalamo pituitary axis.
Ectors, Michel Paul +2 more
core
MÖEBIUS SYNDROME AND CORPUS CALLOSUM AGENESIS; A CASE REPORT [PDF]
Moebius Syndrome is a rare congenital disorder of the facial and abducens nerve. Other cranial nerves may be involved, such as V, IX and XII. Several central nervous system anomalies including hypoplastic or dysplastic brain stem, straightening of the ...
M. R. Ashrafi +1 more
core
A Patient with Schizencephaly and Agenesis of Corpus Callosum with No Neurological Deficits. [PDF]
Ghosn Y +3 more
europepmc +1 more source
Disorganized Patterns of Sulcal Position in Fetal Brains with Agenesis of Corpus Callosum. [PDF]
Tarui T +14 more
europepmc +1 more source
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness. [PDF]
Guen VJ +12 more
europepmc +1 more source
Prenatal characteristics and clinical outcomes in 82 cases with agenesis of corpus callosum: single tertiary center experience. [PDF]
Alpay V, Ersan F, Boza B, Makul M.
europepmc +1 more source
Imaging features of complete agenesis of corpus callosum in a 3-year-old child. [PDF]
Nagwa S, Saran S, Sharma Y, Kharbanda A.
europepmc +1 more source

