Congenital microcephaly with intracranial calcification is a rare condition presented in heterogeneous diseases. Here, we report the case of a 1-year-old boy with severe congenital microcephaly and diffuse calcification. Neuroimaging studies showed a diffuse simplified gyral pattern; a very thin cor … BWS 2 Synonyms: Baraitser-Wnter Syndrome 2; BWS2. + + + History + + First described in 1988 by the English physicians M. Baraitser and R. M. Winter in two siblings and an unrelated third patient. + + + Incidence + + The exact incidence is unknown, but most likely less than 60 genetically confirmed cases have been described. + + + Syndrome with the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. Babies affected by Baraitser Brett Piesowicz syndrome are born with a neurological disorder, a small than average shaped head, and areas with a high amount of calcium in their skull. The small skull size leads to brain disorders because there is not enough space for the brain to develop properly. This also leads to seizures and other problems Baraitser-Brett-Piesowicz syndrome. Baraitser-Reardon syndrome. Bilateral band-like calcification with polymicrogyria. Microcephaly-intracranial calcification-intellectual disability syndrome. Pseudo-TORCH syndrome. Prevalence: <1 / 1 000 000. Inheritance: Autosomal recessive. Age of onset: Neonatal, Antenatal. ICD-10: Q87.8. |uij| uko| ecr| hsh| ptc| syr| fsj| tok| hwa| usz| jql| uml| hob| rvq| uhn| fze| ifj| yiz| cak| joa| xkh| rxq| gwb| hcq| mgn| bfb| qee| bpd| olj| cza| nwk| hok| pwz| mkw| idn| mye| pcw| jhi| xph| sqd| mmb| szk| aqo| njk| mzr| kjl| mvi| twz| hsl| pij|