Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hypertelorism). The additional presence of cortical malformations (pachygyria/lissencephaly) and oc...

Introduction The deductive method: from karyotyping to aCGH and WES is an important aspect in the diagnosis search for causes of intellectual disability due congenital brain anomalies. There recommendation exclude presence CNV or monogenic variants patients with a normal karyotype, but clinical picture syndromic disease. Objectives Improvement disability. Methods 60K Agilent microarrays, SureSe...

Adams-Oliver syndrome (AOS) is a rare congenital disorder with unknown etiology commonly presented with aplasia cutis and terminal limb defects. Central nervous and cardiopulmonary systems may also be affected. It is commonly inherited as an autosomal dominant disorder but autosomal recessive and sporadic cases have also been reported. Here, we present a 10-year-old boy with extensive aplasia c...

This study was conducted in a tertiary pediatric epilepsy clinic to ascertain the spectrum of development malformations in children, with seizures. Seventy Six Children (0-12 yr) with seizures and CNS malformations based on neuroimaging were included. Observed anomalies included dysgenetic corpus callosum (DCC), lissencephaly, focal cortical dysplasia (FCD), pachygyria, polymicrogyria, heteroto...

We report the case of a female suffering from resistant partial seizures, which were related to 'cryptogenic' epilepsy, as the cerebral cortex was considered normal on the initial MRI images. As her son is mentally retarded and has a pachygyria, the doublecortin gene, usually involved in band heterotopia or lissencephaly, was screened for mutations. A missense mutation was identified, shared by...

MR imaging was used to evaluate six patients who had schizencephaly, a disorder of cell migration characterized by holohemispheric, gray-matter-lined clefts. Clinically, these patients presented with intractable seizures and variable developmental delay. Although three of these patients had previous CT scans, the diagnosis was made only by MR. MR was more sensitive than CT in detecting the clef...

Neurofibromatosis 1, an autosomal dominant neurocutaneous disorder characterized by café-au-lait macules, Lisch nodules, neurofibromas, and learning disabilities, affects approximately 1 in 3000 people. Unlike other neurocutaneous disorders such as tuberous sclerosis, epilepsy is not a common clinical feature, occurring in 3.8–7% of NF1 patients. Rarely, case reports have described patients wit...