Results 91 to 100 of about 15,902 (210)
Oral characteristics of Trisomy 8 and monosomy 18: a case report [PDF]
, 2011 Several reports described various mosaic chromosomal syndromes characterized by alterations originated by either an excess or deficit in the number of chromosomes.
Campus, Guglielmo Giuseppe +3 more
core +1 more source
Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 441-452, March 2026.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 This original article is commented on by Scelsa on pages 311–312 of this issue. Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future ...
Avi Shariv +12 more
wiley +1 more source
Radiology Case ReportsLipoma of the corpus callosum, also known as pericallosal lipoma, is a rare congenital brain abnormality associated with corpus callosum dysgenesis or agenesis.
Kazutoshi Konomatsu +9 more
doaj +1 more source
Cognitive and psychosocial deficits in agenesis of the corpus callosum with normal intelligence [PDF]
, 2000 Cognitive disabilities in agenesis of the corpus callosum (ACC) have been described in scattered reports, but few complete case descriptions are available. Consequent psychosocial disabilities in ACC have received little attention.
Brown, Warren S., Paul, Lynn K.
core
A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]
, 2012 Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James +4 more
core +3 more sources
Etiology of Agenesis of Corpus Callosum
Pediatric Neurology Briefs, 2000 Agenesis of the corpus callosum was found in 7 of 135 children (aged 3 months to 15 years) with structural cerebral defects on MRI.
J Gordon Millichap
doaj +1 more source
A case of split notochord syndrome: a child with a neuroenteric fistula presenting with meningitis [PDF]
, 2006 The authors describe a case of split notochord syndrome with a neuroenteric fistula in a newborn presenting with meningitis. Associated anomalies included agenesis of the corpus callosum, short colon, malrotation, epispadias, and an abnormally high ...
Lequin, M.H. (Maarten) +3 more
core +1 more source
Prenatal and postnatal evaluation of polymicrogyria with band heterotopia
Radiology Case Reports, 2017 The coexistence of band heterotopia and polymicrogyria is extremely rare though it has been reported in the presence of corpus callosum anomalies and megalencephaly.
Usha D. Nagaraj, MD +3 more
doaj +1 more source
, 2007 Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes ...
Livia Garavelli +49 more
core +2 more sources
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation [PDF]
, 2018 FUK encodes fucokinase, the only enzyme capable of converting L-fucose to fucose-1-phosphate, which will ultimately be used for synthesizing GDP-fucose, the donor substrate for all fucosyltransferases.
Bearden, David R. +9 more
core +1 more source