Humans ; Infant ; Female ; Dandy-Walker Syndrome/diagnosis* ; Tomography, X-Ray Computed ; Craniocerebral Trauma/complications*

OBJECTIVETo explore the genetic etiology of two fetuses with Dandy-Walker malformation using single nucleotide polymorphism microarray (SNP-array).

METHODSThe fetuses and their parents were subjected to G banding karyotype analysis. The fetuses were also subjected to SNP-array analysis.

RESULTSThe parents of both fetuses showed a normal karyotype. One fetus has a 46,X,?i(X)(q10), while for another conventional cell culture has failed. SNP-array showed that one fetus carried a 6p25.3p25.2 microdeletion, and another carried a Xp22.33p22.2 deletion and a Yq11.221q11 duplication. The abnormal fragments have involved FOXC1, SHOX and STS genes, which are associated with Dandy-Walker malformation.

CONCLUSIONAlteration of 6p25.3p25.2, Xp22.33p22.2 copy numbers probably underlies the Dandy-Walker syndrome in the fetuses. The disorder may be attributed to abnormal expression of FOXC1, SHOX, and STS genes. SNP-array can provide an important supplement for prenatal diagnosis.

Adult ; Chromosome Banding ; Chromosome Deletion ; Dandy-Walker Syndrome ; diagnosis ; genetics ; Female ; Humans ; Polymorphism, Single Nucleotide ; Pregnancy ; Prenatal Diagnosis

Adult ; Dandy-Walker Syndrome ; diagnosis ; surgery ; Female ; Humans ; Neurofibromatosis 1 ; diagnosis ; surgery ; Skull ; abnormalities

OBJECTIVETo investigate genetic etiology of Dandy-Walker syndrome with array-based comparative genomic hybridization (array-CGH).

METHODSEight fetuses with Dandy-Walker malformations but normal karyotypes by conventional cytogenetic technique were selected. DNA samples were extracted and hybridized with Affymetrix cytogenetic 2.7 M arrays by following the manufacturer's standard protocol. The data were analyzed by special software packages.

RESULTSBy using array-CGH technique, common deletions and duplication on chromosome 7p21.3 were identified in three cases, within which were central nervous system disease associated genes NDUFA4 and PHF14.

CONCLUSIONCopy number variations (CNVs) of chromosome 7p21.3 region are associated with Dandy-Walker malformations which may be due to haploinsufficiency or overexpression of NDUFA4 and PHF14 genes.

Chromosomes, Human, Pair 7 ; Comparative Genomic Hybridization ; methods ; Cytogenetic Analysis ; methods ; Dandy-Walker Syndrome ; genetics ; Female ; Gene Deletion ; Humans ; Karyotyping ; methods ; Male ; Pregnancy ; Prenatal Diagnosis ; methods

Agenesis of corpus callosum is the cerebral malformations whose prognosis is uncertain. But the complete agenesis shows more poor prognosis than partial agenesis. So, the type of agenesis can affect significantly the antepartum management. Recently, there has been a development in diagnostic tools like MRI to overcome these limitations of antenatal ultrasonography. We report a case of agenesis of corpus callosum which was diagnosed by prenatal MRI. This case was confused with Dandy-Walker complex in prenatal ultrasonography and supported in diagnosis by prental MRI.
Agenesis of Corpus Callosum* ; Dandy-Walker Syndrome ; Diagnosis ; Magnetic Resonance Imaging* ; Prognosis ; Ultrasonography ; Ultrasonography, Prenatal

Lissencephaly is a rare disorder that is characterized by the disorganized and unlayered cortex. The cause of this disorder is related to chromosomal abnormalities or infection. The pathogenesis of lissencephaly is faulty migration of neuroblast. Lissencephaly is associated with Dandy-Walker syndrome and Miller-Dieker syndrome. A woman at 35 weeks of gestaion was transferred to our hospital due to abnormal antenatal sonographic findings (ventricular dilation and decreased sulci in cerebral cortex after 31 weeks of gestation). The antenatal studies showed none-specific findings. The infant was diagnosed lissencephaly by postnatal MRI evaluation and showed normal karyotype. We report the prenatal diagnosis of lissencephaly case with a literature.
Cerebral Cortex ; Chromosome Aberrations ; Classical Lissencephalies and Subcortical Band Heterotopias ; Dandy-Walker Syndrome ; Female ; Humans ; Infant ; Karyotype ; Lissencephaly* ; Magnetic Resonance Imaging* ; Prenatal Diagnosis ; Ultrasonography

Dandy-Walker syndrome indicates the association of cystic dilatation of fourth ventricle, dysgenesis of the cerebellar vermis and a high position of the tentorium. Dandy-Walker syndrome has an estimated prevalence of about 1 in 30,000 births and is found in 4% to 12% of all cases of infantile hydrocephalus. And trisomy 18 was present in 4.8% of the Dandy-Walker syndrome. Trisomy 18 is a chromosomal aneuploid, which results in multiple severe structural abnormalities that mostly involve the heart, extremities, face, and brain. We experienced a case of Edward syndrome associated with Dandy-Walker syndrome. She did not want to terminate her pregnancy. So, we reviewed a Edward syndrome with Dandy-Walker syndrome and presented the final result in full term delivery.
Aneuploidy ; Brain ; Dandy-Walker Syndrome* ; Dilatation ; Extremities ; Fourth Ventricle ; Heart ; Hydrocephalus ; Parturition ; Pregnancy ; Prenatal Diagnosis* ; Prevalence ; Trisomy

Crossed pulmonary arteries is an uncommon anomaly in which the ostium of the left pulmonary artery originates superiorly and to the right of the right pulmonary artery. The pulmonary arteries then cross each other and supply their respective lungs. The recognition of this rare anomaly is important because of its association with significant cardiac and extracardiac congenital abnormalities. These congenital conotruncal malformations have long been considered part of the clinical spectrum of DiGeorge syndrome, velocardiofacial(Shprintzen) syndrome, and conotruncal face syndrome. More recent reports have shown that a high percentage of patients with these syndromes have microscopic deletions of chromosomal region 22q11. We experienced a case of crossed branch pulmonary arteries in Dandy-Walker malformation. The diagnosis of crossed branch pulmonary arteries was made by echocardiography and this case had no evidence of 22q11 deletion in high resolution chromosome study and fluorescence in situ hybridization. This case of both conotruncal malformation and Dandy-Walker malformaltion was due to an abnormal developmental process involving the neural crest. We report this case with related literature.
Congenital Abnormalities ; Dandy-Walker Syndrome* ; Diagnosis ; DiGeorge Syndrome ; Echocardiography ; Fluorescence ; Humans ; In Situ Hybridization ; Lung ; Neural Crest ; Pulmonary Artery*

No abstract available.
Dandy-Walker Syndrome* ; Prenatal Diagnosis* ; Trisomy*

Dandy-Walker cyst is a rare disease causing hydrocephalus as a result of congenital outlet obstruction of the fourth ventricle. The clinical and C-T findings in two cases of the Dandy-Walker cyst which were confirmed through posterior fossa exploration are described. The patients were an infant and a girl aged 8 months and 16 months, who had presented signs of increased intracranial pressure for relatively short periods before admission. Brain C-T scan showed a generalized hydrocephalus with a large CSF-filled cystic space in the posterior fossa, indicating a defect of cerebellar vermis. Arachnoid cyst, megacisterna magna, ependymal cyst, and porencephalic cyst should be included in differential diagnosis and brain C-T scan alone is not sufficient in pathologic differentiation Posterior fossa exploration and cystic membrane excision were done in both cases with simultaneous ventriculo-peritoneal shunt in the latter case.
Arachnoid ; Brain ; Dandy-Walker Syndrome* ; Diagnosis, Differential ; Female ; Fourth Ventricle ; Humans ; Hydrocephalus ; Infant ; Intracranial Pressure ; Membranes ; Rare Diseases ; Ventriculoperitoneal Shunt