Disease: Colpocephaly
- "Multicystic dysplastic kidney (Potter type II syndrome) and agenesis of corpus callosum (ACC) in two consecutive pregnancies: a possible teratogenic effect of electromagnetic exposure in utero"
- 6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases
- A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings
- A case with a rare chromosomal abnormality: isochromosome 18p
- A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia
- A rare case of colpocephaly with macrocephaly successfully treated with ventriculo-peritoneal shunting
- Abdominal and cranial ultrasound screenings in our Neonatal Intensive Care Unit
- Absent circle of Willis with vascular pollarding in an adult with colpocephaly: A developmental perspective
- Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound
- Agenesis of the corpus callosum
- Agenesis of the corpus callosum in fetuses with mild ventriculomegaly: role of MR imaging
- Agenesis of the corpus callosum: Cognitive and neuropsychiatric symptoms in children and adolescents--a case report
- Agenesis of the fetal corpus callosum: sonographic signs change with advancing gestational age
- Asymptomatic colpocephaly and partial agenesis of corpus callosum
- Attention Deficit Hyperactivity Disorder in a Patient With Congenital Mirror Movement Disorder and Colpocephaly
- Atypical meningioma in the posterior fossa associated with colpocephaly and agenesis of the corpus callosum
- Axenfeld-Rieger syndrome: more than meets the eye
- Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations
- Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities
- Brain and behavior in 48, XXYY syndrome
- Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome
- Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study
- Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities
- Calcified meconium balls in a newborn: an unusual case with imperforate anus, rectourinary fistula, colpocephaly, and agenesis of corpus callosum
- Can a Cerebral Congenital Anomaly Present in Adulthood?
- Case report: A gain-of-function of hamartin may lead to a distinct "inverse <em>TSC1</em>-hamartin" phenotype characterized by reduced cell growth
- Case study: a patient with agenesis of the corpus callosum with minimal associated neuropsychological impairment
- Cerebral abnormalities in infants with myelomeningocele
- Characteristics, associations and outcome of partial agenesis of the corpus callosum in the fetus
- Chudley McCullough syndrome
- Chudley-McCullough syndrome: case report and review of the neuroimaging spectrum
- Clinical and EEG studies of symptomatic focal epilepsy in 7 patients with colpocephaly
- Clinical delineation of a patient with trisomy 1q32.qter and monosomy 5p resulting from a familial translocation 1;5
- Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6
- Coexistence of proboscis lateralis and multiple craniofacial, neurological, cardiac and spinal deformities: a one-of-a-kind case report
- Colpocephaly and Partial Agenesis of Corpus Callosum with High Neurodegenerative Marker Levels
- Colpocephaly Diagnosed in a Neurologically Normal Adult in the Emergency Department
- Colpocephaly in adults
- Colpocephaly in an adult: A rare case report
- Colpocephaly: a case report
- Common findings on head computed tomography in neonates with confirmed congenital Zika syndrome
- Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies
- Congenital accessory palpebral aperture--an addition to the spectrum of Delleman syndrome
- Congenital cystic eye in utero: novel prenatal magnetic resonance imaging findings
- Congenital Cytomegalovirus in a Resource-Limited Setting: A Case Report
- Congenital fibrosis syndrome associated with central nervous system abnormalities
- Cranial MR characteristics of Cerebral Palsy cases and correlation of findings with clinical results
- De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay
- Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
- Deletion of chromosome 21 disturbs human brain morphogenesis
- Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome
- Familial hydrocephalus with normal cognition and distinctive radiological features
- Femoral-facial syndrome with malformations in the central nervous system
- Fetal corpus callosum abnormalities: Ultrasound and magnetic resonance imaging role
- First-trimester intrauterine Zika virus infection and brain pathology: prenatal and postnatal neuroimaging findings
- Frontoethmoidal encephalomeningocoele with colpocephaly: case report and clinical review
- Fumaric aciduria: an overview and the first Brazilian case report
- Heterotopic gray matter: A rare cause of epilepsy
- Hydrocephalus in encephalocele
- In utero magnetic resonance of non-isolated ventriculomegaly: Does ventricular size or morphology reflect pathology?
- Incomplete distal renal tubular acidosis uncovered during pregnancy: A case report
- Iniencephaly: Radiological and pathological features of a series of three cases
- Isolated agenesis of the corpus callosum and normal general intelligence development during postnatal life: a case report and review of the literature
- Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient
- Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome
- Microcephaly associated with Legg-Calvè-Perthes disease in two siblings
- Mixed vascular nevus syndrome: a report of four new cases and a literature review
- Morphometric variability of neuroimaging features in children with agenesis of the corpus callosum
- Multiple <em>de novo</em> gene variations in a progeroid phenotype case report: haploinsufficiency mechanisms
- Neuroimaging Findings in a Child With SensorineuralHearing Loss
- Neuropsychological functioning in dysgenesis of the corpus callosum with colpocephaly
- Neuropsychological presentation of colpocephaly and porencephaly with symptom onset in adulthood
- Oculocerebrocutaneous Syndrome (Delleman Syndrome): A Case with a Novel Presentation of Orbital Involvement
- Organising white matter in a brain without corpus callosum fibres
- Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II
- Panayiotopoulos syndrome with coincidental brain lesions
- Panhypopituitary insufficiency in a patient with clinical diagnosis of Chitayat-Hall syndrome
- PARTIAL TRISOMY 4p AND PARTIAL MONOSOMY 13q: CASE REPORT AND A LITERATURE REVIEW
- Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells
- Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene
- Planar measurements of foetal lateral ventricles
- Prenatal assessment of ventriculomegaly: an anatomical study
- Prenatal diagnosis of colpocephaly with absent corpus callosum
- Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature
- Prenatal sonographic and magnetic resonance imaging demonstration of a right midline arachnoid cyst associated with ventriculomegaly, colpocephaly, dilation of the third ventricle, absence of cavum septi pellucidi, agenesis of the corpus callosum and mega
- Progressive development of sonographic features in prenatal diagnosis of Apert syndrome--case report and literature review
- Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome
- Relationship Between Epilepsy and Colpocephaly in Baboons (Papio hamadryas)
- Septal agenesis and lissencephaly with colpocephaly presenting as the 'Crown Sign'
- Shapiro syndrome
- Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly
- Three-dimensional ultrasound diagnosis of Larsen syndrome with further characterization of neurological sequelae
- Toxoplasma gondii infections in pediatric neurosurgery
- Transsphenoidal encephalocele, colpocephaly and corpus callosum agenesis in a midline cleft lip and palate patient: A very rare case
- TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy
- Unusual context of <em>CENPJ</em> variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient
- Validation of Sonographic Fronto-Occipital Ratio Based on Anatomical Landmarks Compared to MR/CT-Derived Indexes in Children with Chiari II and Ventriculomegaly
- Ventriculomegaly, intrauterine growth restriction, and congenital heart defects as salient prenatal sonographic findings of Miller-Dieker lissencephaly syndrome associated with monosomy 17p (17p13.2 --> pter) in a fetus
- Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report
- Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature