Search results
Results from the WOW.Com Content Network
Dandy–Walker malformation (DWM), also known as Dandy–Walker syndrome (DWS), is a rare congenital brain malformation in which the part joining the two hemispheres of the cerebellum (the cerebellar vermis) does not fully form, and the fourth ventricle and space behind the cerebellum (the posterior fossa) are enlarged with cerebrospinal fluid.
Dandy–Walker malformation, ataxia with oculomotor apraxia, ... Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, ...
Dandy Walker malformation is a relatively common congenital brain malformation with a prevalence of 1:30,000 live births. [17] Dandy Walker malformation is characterized by enlarged posterior fossa and in which the cerebellar vermis is completely absent, or present in a rudimentary form, sometimes rotated accompanied by an elevation of the ...
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.
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.
Occasionally, Joubert syndrome will include heart malformations. Brachmann–de Lange syndrome must also be differentiated from 3C syndrome. It presents with similar craniofacial and heart abnormalities and can include Dandy–Walker phenotype, making it difficult to distinguish.
AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce. [ 2 ]
Congenital malformation or underdevelopment of the cerebellar vermis is a characteristic of both Dandy–Walker syndrome and Joubert syndrome. [71] [72] In very rare cases, the entire cerebellum may be absent. [73]