Cases reported "Dandy-Walker Syndrome"

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11/14. trisomy of the short arm of chromosome 5: autopsy data in a malformed newborn with inv dup (5) (p13.1

   p15.3).     In this paper we report detailed autopsy data of a malformed male newborn with 5p trisomy due to a de novo inverted 5p duplication, inv dup (5)(p13.1   p15.3), and we compare these data with the findings in previous reports on 5p trisomy. Cerebral malformations, i.e. agenesis of corpus callosum, and Dandy-Walker cyst malformations, seem to be another characteristic finding in this partial autosomal duplication syndrome.
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ranking = 1
keywords = trisomy
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12/14. Complete trisomy 9: case report with ultrasound findings.

    In a case of complete trisomy 9, ultrasound findings led to prenatal diagnosis. This case is reviewed in the context of previous case reports. A 29-year-old gravida III, para II was referred at 34 weeks because of abnormal ultrasound findings. The findings included intrauterine growth retardation, Dandy-Walker malformation, a single atrium, liver calcifications, a two-vessel cord, and abnormal Doppler studies. Percutaneous umbilical blood sampling revealed complete trisomy 9. prenatal diagnosis led to a plan of no intervention for fetal indications. autopsy revealed facial, cardiovascular, central nervous, and skeletal findings frequently seen in complete trisomy 9. review of all cases showed that 12 of 15 (80%) occurred in mothers younger than 35 years, 11 of 13 cases (85%) delivering after 23 weeks' gestation were small for gestational age, and 7 of 12 liveborns (58%) had cesarean delivery. Only 3 of 12 liveborns (25%) lived beyond 7 days. Abnormal ultrasound findings can be seen in cases of complete trisomy 9. prenatal diagnosis allows the parents to make an informed decision regarding fetal intervention, which may avoid unnecessary cesarean delivery.
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ranking = 4
keywords = trisomy
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13/14. prenatal diagnosis of trisomy 9 mosaic presenting as a case of Dandy-Walker malformation.

    trisomy 9 syndrome is a rare chromosomal anomaly associated with specific patterns of multisystem dysmorphism and occasional central nervous system (CNS) malformations, the most common being the Dandy-Walker malformation. Milder anomalies are usually seen with trisomy 9 mosaicism. We report what we believe to be the first case of a baby with an isolated Dandy-Walker malformation which was diagnosed prenatally and was subsequently found to have a trisomy 9 mosaic syndrome.
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ranking = 3
keywords = trisomy
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14/14. prenatal diagnosis of supernumerary der(22)t(11;22) associated with the Dandy-Walker malformation in a fetus.

    We present the first report of prenatally diagnosed Dandy-Walker malformation with the karyotype of partial trisomy 11 and 22 due to familial translocation t(11;22)(q23;q11) inherited in three generations. We demonstrate that the Dandy-Walker malformation can be an associated congenital malformation of supernumerary der(22)t(11;22) syndrome and emphasize the importance of chromosomal analysis and genetic counselling in the obstetric management of prenatally diagnosed Dandy-Walker malformation.
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ranking = 1.8532233268778
keywords = partial trisomy, trisomy
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