Disease relevance of Dandy-Walker Syndrome

• The case of a premature female infant with multiple congenital anomalies, including nasopharyngeal teratoma, Dandy-Walker malformation, diaphragmatic hernia, and congenital heart defect, is presented [1].
• This observation suggests the existence of oligosymptomic hydrolethalus syndrome, and suggests that Dandy-Walker malformation with polydactyly may be a manifestation of the hydrolethalus syndrome [2].
• We report on a female newborn with holoprosencephaly, craniosynostosis, and multiple congenital anomalies including cloverleaf skull, Dandy-Walker malformation, bilateral microphthalmia, cleft soft palate, congenital scoliosis, hypoplastic nails and coarctation of aorta [3].
• This form of frontonasal dysplasia was documented previously in a few other cases with various combinations of postaxial polydactyly, tibial hypoplasia, epibulbar dermoid, occipital encephalocoele, corpus callosum agenesis and Dandy-Walker malformation [4].
• Congenital hydrocephalus and Dandy-Walker malformation associated with warfarin use during pregnancy [5].

High impact information on Dandy-Walker Syndrome

• Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation [6].
• Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation [7].
• We propose that this newly discovered cerebellar malformation be added to the list of malformations associated with aplasia or hypoplasia of the cerebellar vermis, such as Dandy-Walker malformation, Joubert syndrome, tectocerebellar dysraphia, and rhombencephalosynapsis [8].
• An apparently new autosomal recessive syndrome with facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation [9].
• Dandy-Walker malformation in Ellis-van Creveld syndrome [10].

Chemical compound and disease context of Dandy-Walker Syndrome

• Molybdenum cofactor deficiency associated with Dandy-Walker malformation [11].

Biological context of Dandy-Walker Syndrome

• Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature [12].

Anatomical context of Dandy-Walker Syndrome

• These histopathologic findings suggest that a primary neuronal or glial cell defect, rather than an associated Dandy-Walker malformation, may account for the cerebellar abnormalities in this form of oral-facial-digital syndrome [13].

Gene context of Dandy-Walker Syndrome

• The purpose of this report is to delineate the characteristics of a multiple malformation syndrome of Dandy-Walker malformation and sagittal craniosynostosis [14].
• Postmortem examination showed gross internal anomalies: Dandy-Walker malformation, ventricular septal defect, and renal cystic dysplasia [15].
• A case of Kallmann syndrome associated with Dandy-Walker malformation [16].
• However, neither megalocornea, Dandy-Walker malformation, postaxial hexadactyly, rocker-bottom feet, nor atrial septal defect, as observed in our patient, has been reported previously in association with DMS [17].
• Aicardi syndrome with Dandy-Walker malformation [18].

References