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The term Dandy–Walker syndrome (DWS) was introduced by German psychiatrist Clemens Ernst Benda in 1954; he also used the term Dandy–Walker malformation once. [ 1 ] [ 6 ] In 1976, Harwood-Nash and Fitz proposed the term Dandy–Walker variant (DWV) for a malformation in which the posterior fossa is not enlarged but the cerebellar vermis is ...
A variety of brain abnormalities are also associated with 13q deletion. They can include epilepsy, craniosynostosis (premature closing of the skull bones), spastic diplegia, cerebral hypotrophy, underdevelopment or agenesis of the corpus callosum, cerebellar hypoplasia, deafness, and, rarely, hydrocephalus, Dandy–Walker syndrome, and spina ...
The condition was dubbed "Jones Syndrome" later that year but this term is not widely used as another condition is also known by this name. In 2010, another family of Moroccan-Jewish origin were reported to have the syndrome, and it was noted that the posterior fossa anomalies were most likely responsible for the development of hydrocephalus.
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Approximately 10% of patient with neurocutaneous melanosis also present the Dandy–Walker syndrome and associated Dandy-Walker malformation. This malformation involves an enlargement of the posterior fossae and fourth ventricle along with agenesis of the cerebellar vermis. The abnormalities of the leptomeninges during fetal development due to ...
A sonogram before their birth showed Sinny had a hole in heart and she was diagnosed with Dandy-Walker syndrome, a rare congenital disorder that affects brain development.
3C syndrome is an autosomal recessive disease, caused by a mutation on the long arm of chromosome 8 at 8q24.13, the locus for KIAA0196, [4] the gene for the protein strumpellin. Strumpellin is highly expressed in skeletal muscle cells and mutations in it are also associated with spastic paraplegia .
Jackie Galgey, 45, shares in a personal essay her experience with trigeminal neuralgia, also called the suicide disease, which caused her one-sided facial pain.