Results 71 to 80 of about 1,803 (152)
Postnatal evaluation of schizencephaly by transfontanellar three-dimensional sonography
, 2007 Schizencephaly is a rare anomaly of neuronal migration characterized by the presence of brain clefts that communicate with the lateral ventricles. Type I is characterized by clefts with fused lips or margins, not communicating with the subarachnoid space.
Moron, Antonio Fernandes [UNIFESP] +6 more
core +1 more source
Schizencephaly in Leopard Syndrome
, 2009 We report on a 2-year-old boy with facial dysmorphism, multiple lentigines, and hypertrophic cardiomyopathy. Mutation analyses of the patient and his mother revealed a Y 279G mutation in exon 7 of the PTPN11 gene.
梁昭鉉;簡穎秀;胡務亮;葉樹人;彭信逢 +6 more
core +1 more source
Developmental Medicine &Child Neurology, Volume 68, Issue 5, Page 688-695, May 2026.Abstract Aim To evaluate the relationship between Preverbal Visual Assessment (PreViAs) results and cerebral visual impairment (CVI) diagnosis. Method This single‐center retrospective chart review included children who completed a CVI interdisciplinary clinic or occupational therapy vision evaluation between May 2018 and May 2023 and had a completed ...
Karen L. Harpster +5 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.We report prenatal diagnosis of MCPH2 via trio‐WES, identifying novel compound heterozygous WDR62 variants. To our knowledge, prenatal MRI detection of lobar HPE and lissencephaly with the agyria–pachygyria complex has not been reported in fetuses with WDR62 variants. Consequently, these findings have advanced our understanding of prenatally detectable
Yan‐Fang Li +3 more
wiley +1 more source
Clinical Genetics, Volume 109, Issue 4, Page 788-795, April 2026.We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil +9 more
wiley +1 more source
Case of Schizencephaly: a case report
, 2020 Schizencephaly is a rare developmental disorder of neuronal migration, characterized by early focal destruction of the germinal matrix and surrounding brain before the cerebral hemispheres are fully formed at 1-5 months of gestation .The lesion is most ...
Malla Kk +3 more
core
Right Homonymous Hemianopia: A Clinical Case Report of Schizencephaly
Case Reports in Ophthalmology, 2016 Purpose: To report a case of a 56-year-old male with right homonymous hemianopia. Methods: Retrospective descriptive study of a case report based on information from clinical records, patient observation and analysis of complementary diagnostic tests ...
Arminda Neves +5 more
doaj +1 more source
Psychosis and Schizencephaly – A Case Report and Systematic Review
, 2017 Psychotic symptoms have been reported in association with a wide array of brain abnormalities. Few published reports have examined the association between schizencephaly and psychiatric illness.
J. Zebelian +5 more
core +1 more source
Unilateral open lip schizencephaly: a case report
National Journal of Clinical Anatomy, 2015 Schizencephaly is a rare malformation of the central nervous system defined as a gray matter-lined cleft filled with cerebrospinal fluid that extends from the pial surface to the ventricle. We present a case of a 16 year old male patient with intractable
Prabahita Baruah +2 more
doaj +1 more source
Bilateral Schizencephaly Type II [PDF]
, 2014 BackgroundSchizencephaly is one of the most severe forms of neuronal migration defects and is an extremely rare cause of seizure disorder. Case detailsWe report a case of bilateral schizencephaly (Type II) presenting as seizure disorder since birth ...
Vikas Agarwal; Consultant Pediatrician, Gwalior, MP +3 more
core +2 more sources