Dandy–Walker syndrome and chromosomal abnormalities

Abstract

Dandy-Walker syndrome (DWS) is a brain malformation of unknown etiology, but several reports have been published indicating that there is a causal relationship to various types of chromosomal abnormalities and malformation syndromes. In the present article, we present a bibliographical survey of several previously issued reports on chromosomal abnormalities associated with DWS, including our case of DWS found in trisomy 18. There are various types of chromosomal abnormalities associated with DWS; most of them are reported in chromosome 3, 9, 13 and 18. We also summarize some other chromosomal abnormalities and various congenital malformation syndromes.

Síndrome do X Frágil com variante de Dandy-Walker: estudo clínico das manifestações comunicativas orais e escritas

“…These anomalies pertain to a continuum of malformations (hypoplasia of the cerebellar vermis, slightly widened frontal region; increased cisterna magna in communication with the IVth ventricle) (8)(9)(10) . It should be pointed out that in the literature review performed, only one clinical description was found of the association of the Fragile X with neuro-radiological findings compatible with Dandy-Walker malformation (11) . However, in this description there was no report with regard to the communicative or academic performance.…”

“…However, it should be emphasized that hypoplasia of the cerebellar vermis is not considered a neuroanatomic marker of autism. Researches have also related alterations of the cisterna magna to psychotic conditions (11) and agenesia of the corpus callosum may be associated with greater intellectual compromise.…”

“…The literature (11) points out that in the Dandy-Walker syndrome, cerebral malformation, although of unknown etiology, has been reported as having a causal relationship with various types of chromosomal abnormalities and syndromes with various malformations. In addition other conditions pertaining to the Dandy-Walker complex were discussed.…”

“…Whereas the Dandy-Walker variant is characterized by variable hypoplasia of the cerebellar vermis with or without widening of the cisterna magna, presence of communication between the fourth ventricle and the arachnoideal space, and absence of hydrocephalia (9) . Thus, the Dandy-Walker variant is considered the mildest form of the Dandy-Walker complex (9)(10)(11) .…”

Caudal Anesthesia in a Neonate with Dandy-Walker Syndrome

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AbstractDandy-Walker Syndrome (DWS) is an intrauterine developmental anomaly, which consists of 4-12% of all infants having hydrocephalus its prevalence is 1/30000 in all live births [1,2]. Cranio-facial anomalies such as cleft lip and palate, micrognathia and hypertelorism, together with cardiac and renal anomalies, limb anomalies (syndactyly, polydactyly, etc.)

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