Agenesis of the corpus callosum

Aicardi Syndrome Is a Genetically Heterogeneous Disorder mdpi.com/2073-4425/14/8…

Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype. obgyn.onlinelibrary.wiley.com/doi/10.1002/pd… #MFM #PrenatalDiagnosis

Cognitive and Psychological Impacts of Congenital Corpus Callosum Disorders in Adults: A Scoping Review link.springer.com/article/10.100… @acorpuscallosum

Genetic heterogeneity in corpus callosum agenesis frontiersin.org/articles/10.33…

Mirror movements and callosal dysgenesis in a family with a DCC mutation: Neuropsychological and neuroimaging outcomes sciencedirect.com/science/articl…

Social anxiety disorder in an adolescent with agenesis of the corpus callosum: a case report bmcpsychiatry.biomedcentral.com/articles/10.11…

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder sciencedirect.com/science/articl…

QUALITY OF LIFE - Study for Adults with a CCD This research survey is winding up soon. We would love to hear your opinions. Please follow the link. melbourneuni.au1.qualtrics.com/jfe/form/SV_5n… Hoping to get a few more of your ideas before closing. Michael-Research Advisory Panel member @agenesisCC

3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein’s Anomaly in a Male Fetus goo.gl/scholar/kZCknF

Social-emotional, sleep and feeding problems in young patients with agenesis of the corpus callosum and the life quality of their parents (From 2021, but just found) tandfonline.com/doi/abs/10.108…

ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection onlinelibrary.wiley.com/doi/full/10.10…

@Molly_Spoon I'm sorry to hear this. The divide between the often worst case scenario offered during pregnancy then the lacking or overlooked support (at times dismissive) for children and adults has been mentioned by many before.

Incidence, follow-up, and postnatal clinical progress of children with central nervous system anomalies on fetal MRI (Corpus callosum anomalies were one of the most prevalent) thejns.org/pediatrics/vie…

The Prenatal Morphomechanic Impact of Agenesis of the Corpus Callosum on Human Brain Structure and Asymmetry (From 2021, but a good one I just found) academic.oup.com/cercor/article…

The implications of this are discussed in our scoping review, which covered - Prenatal diagnosis; - Neuroanatomy, additional anomalies, and causes of ACC, - Neurodevelopment after a prenatal diagnosis; & - Recommendations for care. jognn.org/article/S0884-… #review #anomaly

This acknowledgement of colpocephaly as a part of the ACC presentation is not noted enough in literature, as such, when teams see ⬆️ vent side, counselling can significantly change. But increasing size over gestation is common: onlinelibrary.wiley.com/doi/10.1002/ju… #mfm #fetal #NeuroTwitter

ACC: "Colpocephaly is universal. Disproportionate dilation of the occipital horns has been postulated to reflect...; however,... recent literature suggests that the maloriented, uncrossed commissural tissue is responsible". Mini 🧵 birpublications.org/doi/abs/10.125… #mri #brain

Intracranial Anomalies, Epilepsy, Non-neurologic Complications, and Neurodevelopmental Outcome in Patients with Aicardi Syndrome: A Retrospective Review (Thesis under embargo) etd.ohiolink.edu/apexprod/rws_o…

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort #CoffinSiris #prenataldiagnosis #mfm #ACC sciencedirect.com/science/articl…

@ArviN2307 @AusdoccInc @NODCCorg @officialcorpal Also, I'm sorry to hear about your son's prolonged seizures, that must be very hard. I hope your healthcare team can help.

@agenesisCC @AusdoccInc @NODCCorg @officialcorpal Hello ACC team, Answer is No, as my son is still going through investigation around his development delays and now since last 6 months we have been seeing prolong siezures which is now driving investigation around genetic as well as Neuro aspects. Is there a connect in UK

Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies (Several cases with CCD) obgyn.onlinelibrary.wiley.com/doi/abs/10.100…