Dandy walker malformation

Dandy walker malformation

Dundy-Walker malformation is an anomaly in the development of the fourth ventricle region in combination with cerebellar hypoplasia, hydrocephalus, atresia of the holes of Luschka and Magendie, observed in isolation or as part of several syndromes.

    • Dyundy-Walker syndrome (Dyundy-Walker disease, 220200, DWS gene defect, p or polygenic). Expansion of the IV ventricle, hydrocephalus, cranial nerve palsies, nystagmus, static ataxia, pronounced relief of the transverse sinuses, thinning and protrusion of the bones of the posterior cranial fossa, partial or complete absence of the cerebellar vermis.
    • Pettigrew syndrome (*304340, Xq25-Xq27, PGS gene defect, K). Signs of Dandy-Walker syndrome, as well as high-frequency sensorineural hearing loss, mental retardation, seizures. Synonyms: Dandy-Walker malformation with mental retardation, basal ganglia disease with seizures.
    • Ritscher-Schinzel syndrome (*220210, p). Signs of the Dundy-Walker syndrome, as well as damage to the atrioventricular septum, primary interatrial septum, macrocephaly, hypertelorism, hypoimmunoglobulinemia: aplasia of the first ribs. Synonyms: Dandy-Walker type malformation with atrioventricular septal deficiency, craniocerebellar-cardiac dysplasia.
    • Dandy-Walker malformation with polydactyly (220220, p).


    • Q03 Congenital hydrocephalus
    • Q03.1 Atresia foramina of Magendie and Luschka


    • 220200 Dundy-Walker Syndrome
    • 220210 Ritscher-Schinzel syndrome
    • 220220 Dundy-Walker malformation with polydactyly
    • 304340 Pettigrew Syndrome

Literature. Dandy WE, Blackfan KD: Internal hydrocephalus: an experimental, clinical and pathological study. Am. J. Dis. child. 8: 406-482, 1914; Pettigrew AL et al: New mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures. Am. J. Med. Genet. 38: 200-207, 1991; Ritscher D et ai: Dandy-Walker (like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome? Am. J. Med. Genet. 26: 481-491, 1987; Taggart JK, Walker AE: Congenital atresia of the foramens of Luschka and Magendie. Arch. Neural. Psychiatry. 48:583-612, 1942

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