Dandy–Walker malformation in the Meckel syndrome

Herriot, Richard; Hallam, Lavinia; Gray, Elizabeth

doi:10.1002/ajmg.1320390218

Cited by 26 publications

(14 citation statements)

References 13 publications

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“…Cases 4 and 5 in our series are similar to the postnatal description by Kudo et al [3], and the prenatal diagnosis made later by other authors [2,14]. Both cases are the first diagnosed by first trimester ultrasound examination.…”

Section: Discussionsupporting

confidence: 76%

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Fetal Cystic Malformations of the Posterior Fossa in the First Trimester of Pregnancy

Nizard¹,

Bernard²,

Ville³

2005

Fetal Diagn Ther

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Diagnosis of abnormalities of the posterior fossa, such as Dandy-Walker malformation, can be assessed during the first trimester of pregnancy by ultrasonography. We report on 5 cases of posterior fossa abnormalities, 4 Dandy-Walker malformations and 1 Dandy-Walker variant, diagnosed during the first trimester of pregnancy by ultrasound examination. All cases were confirmed later during the pregnancy by further ultrasound examinations or by postmortem examination when parents elected for termination of pregnancy. Two of our Dandy-Walker malformation cases were siblings from consanguineous parents and had a Meckel syndrome variant associated with the posterior fossa malformation, multicystic kidneys and hepatic fibrosis. We believe first trimester diagnosis of Dandy-Walker complex is possible, but needs to be confirmed later during the pregnancy and should prompt a detailed survey for other abnormalities.

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Section: Discussionsupporting

confidence: 76%

“…We compare our cases and their prognosis to the ones in the literature. Two of our cases are siblings from consanguineous parents where the Dandy-Walker malformation is part of a variant of Meckel syndrome already described in the literature [2][3][4]. These 2 cases are the first described in the first trimester of pregnancy.…”

Section: Introductionmentioning

confidence: 99%

Fetal Cystic Malformations of the Posterior Fossa in the First Trimester of Pregnancy

Nizard¹,

Bernard²,

Ville³

2005

Fetal Diagn Ther

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“…Other malformations may be observed in MKS, for example cleft palate with or without cleft lip, microphthalmia, cystic and fibrotic changes of other visceral organs such as pancreas and epididymis (Rehder and Labbé 1981;Seller 1981;Rapola and Salonen 1985) and congenital heart defect. Cases with DandyWalker malformation, with or without polydactyly, have also been reported (Goldston et al 1963;Kudo et al 1985;Herriot et al 1991;Walpole et al 1991;Moerman et al 1993;Summers and Donnenfeld 1995;Al-Gazali et al 1996). Whether Dandy-Walker malformation is part of the true MKS or whether these cases represent atypical MKS is controversial.…”

Section: Introductionmentioning

confidence: 87%

Clinical and genetic heterogeneity in Meckel syndrome

et al. 1997

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Meckel syndrome (MKS) is a lethal malformation syndrome characterised by posterior meningoencephalocele, polycystic kidneys, fibrotic changes of the liver, and polydactyly. We have previously shown a linkage to chromosome 17q in 17 Finnish Meckel families. In this study we have analysed one Italian, one Austrian (of Turkish origin) and three British MKS families (Caucasian, Pakistani, and Bangladeshi families) for linkage to the MKS locus on chromosome 17q22-q24. We did not observe co-segregation of the disease and marker haplotypes in the Austrian family or in the three British families, of which two represented classical MKS and one a slightly atypical MKS phenotype with longer survival of the patient. In the Italian family the affected and non-affected children did not share the same maternal chromosome and thus this family could represent the same allelic disease as the Finnish MKS families. These results suggest locus heterogeneity in Meckel syndrome--a feature previously suspected based on the highly variable clinical phenotype.

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“…Ahdab-Barmada and Claassen [22] suggested that a distinctive triad of CNS malformations (prosencephalic dysgenesis, occipital encephalocele, and rhombic roof dysgenesis) should be included in the diagnostic criteria of MKS. Herriot et al [23] suggested that the DandyWalker malformation (DWM) should be accepted as one of the malformations associated with MKS. It had been debated that DWM coexisting with typical features of MKS should, perhaps, be treated as a different recessive syndrome.…”

Section: Clinical Features Of Meckel-gruber Syndromementioning

confidence: 99%

Molecular Genetics and Pathogenic Mechanisms for the Severe Ciliopathies: Insights into Neurodevelopment and Pathogenesis of Neural Tube Defects

2010

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Meckel-Gruber syndrome (MKS) is a severe autosomal recessively inherited disorder characterized by developmental defects of the central nervous system that comprise neural tube defects that most commonly present as occipital encephalocele. MKS is considered to be the most common syndromic form of neural tube defect. MKS is genetically heterogeneous with six known disease genes: MKS1, MKS2/TMEM216, MKS3/TMEM67, RPGRIP1L, CEP290, and CC2D2A with the encoded proteins all implicated in the correct function of primary cilia. Primary cilia are microtubule-based organelles that project from the apical surface of most epithelial cell types. Recent progress has implicated the involvement of cilia in the Wnt and Shh signaling pathways and has led to an understanding of their role in normal mammalian neurodevelopment. The aim of this review is to provide an overview of the molecular genetics of the human disorder, and to assess recent insights into the etiology and molecular cell biology of severe ciliopathies from mammalian animal models of MKS.

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Dandy–Walker malformation in the Meckel syndrome

Cited by 26 publications

References 13 publications

Fetal Cystic Malformations of the Posterior Fossa in the First Trimester of Pregnancy

Fetal Cystic Malformations of the Posterior Fossa in the First Trimester of Pregnancy

Clinical and genetic heterogeneity in Meckel syndrome

Molecular Genetics and Pathogenic Mechanisms for the Severe Ciliopathies: Insights into Neurodevelopment and Pathogenesis of Neural Tube Defects

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