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

A very characteristic congenital anomaly, atresia of the foramina of Luschka and Magendie, the outlet foramina of the fourth ventricle, referred as the Dandy-Walker Cyst by Raimondi and et al. in 1968. Really in 1921, Dandy discussed the clinical diagnosis and treatment of hydrocephalus secondary to occlusion of the foramina of Magendie and Luschka. In 1944, Walker reported a case of congenital atresia of the outlets of the fourth ventricle treated surgically. We are reporting one case of this cyst was surgical intervention and carried autopsy.
Autopsy ; Dandy-Walker Syndrome* ; Diagnosis ; Fourth Ventricle ; Hydrocephalus

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

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

In 1921, Dandy discussed the clinical diagnosis and treatment of hydrocephalus secondary to occlusion of the foramina of Magendie and Luschka. In 194, Walker reported a case of congenital atresia of the outlets of the fourth ventricle treated surgically. Since a detailed study of this disease entity by Benda in 1954, the condition has commonly been known by the term, the Dandy-Walker syndrome. In 1968, Raimondi and et al refered this condition as the Dandy-Walker cyst. There is considerable discussion as to the nature of the fundamental embryologic error in this condition, but Denda suggested that atresia of developing fourth ventricular foramina was only a part of the syndrome and not its cause, because in some cases reported, the foramina were found to be patent. These patients. Show characteristic clinical symptoms, signs and radiological findings and should suggest the correct diagnosis. This syndrome was one of the first cause of hydrocephalus to be treated successfully by surgery. We are reporting one case of this cyst encountered recently at Yonsei University Medical Center.
Academic Medical Centers ; Dandy-Walker Syndrome* ; Diagnosis ; Fourth Ventricle ; Humans ; Hydrocephalus

In 1921, Dandy discussed the clinical diagnosis and treatment of hydrocephalus secondary to occlusion of the foramina of Magendie and Luschka. In 194, Walker reported a case of congenital atresia of the outlets of the fourth ventricle treated surgically. Since a detailed study of this disease entity by Benda in 1954, the condition has commonly been known by the term, the Dandy-Walker syndrome. In 1968, Raimondi and et al refered this condition as the Dandy-Walker cyst. There is considerable discussion as to the nature of the fundamental embryologic error in this condition, but Denda suggested that atresia of developing fourth ventricular foramina was only a part of the syndrome and not its cause, because in some cases reported, the foramina were found to be patent. These patients. Show characteristic clinical symptoms, signs and radiological findings and should suggest the correct diagnosis. This syndrome was one of the first cause of hydrocephalus to be treated successfully by surgery. We are reporting one case of this cyst encountered recently at Yonsei University Medical Center.
Academic Medical Centers ; Dandy-Walker Syndrome* ; Diagnosis ; Fourth Ventricle ; Humans ; Hydrocephalus

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

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*

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

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