Meckel-Gruber Syndrome: Pathologic Manifestations, Minimal Diagnostic Criteria, and Differential Diagnosis

Alexiev, Borislav A.; Lin, Xiaoqing; Sun, Chen; Brenner, David S.

doi:10.5858/2006-130-1236-ms

Cited by 74 publications

(12 citation statements)

References 23 publications

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“…Meckel-Gruber syndrome requires to be differentiated mainly from trisomy 13 (Patau syndrome) 12 usually does not show encephalocele, polycystic lesions of kidneys/liver and polydactyly. 7,10,11…”

Section: Discussionmentioning

confidence: 99%

Meckel-Gruber Syndrome (Dysencephalia Splanchnocystica)

Shetty

Alva²,

Patil³

et al. 2012

The Journal of Contemporary Dental Practice

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Meckel-Gruber syndrome is a rare lethal autosomal recessive condition which was first described by Johann Friedrich Meckel in 18221 and GB Gruber in 1934.2 More than 200 cases have been reported worldwide with an incidence ranging from 1:13,250 to 1:140,000 live births.3 A 21-year-old female with G3 A2 L0, presented with twin pregnancy with history of previous two anencephalic pregnancies. The present pregnancy was a preterm vaginal delivery of female twins by face presentation at 35 weeks of gestation (diamniotic dichorionic twin gestation). Neonatal autopsy revealed classical triad of occipital encephalocele, polycystic kidneys and lungs with postaxial polydactyly. This case is presented for its rarity and its documented occurrence in Gujarati Indians. How to cite this article Shetty BP, Alva N, Patil S, Shetty R. Meckel- Gruber Syndrome (Dysencephalia Splanchnocystica). J Contemp Dent Pract 2012;13(5):713-715.

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Section: Discussionmentioning

confidence: 99%

Meckel-Gruber Syndrome (Dysencephalia Splanchnocystica)

Shetty

Alva²,

Patil³

et al. 2012

The Journal of Contemporary Dental Practice

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“…Meckel‐Gruber syndrome is the most well‐known association of cephalocele with other defects and comprises cephalocele, bilateral renal cystic dysplasia, fibrosis, hepatic cysts, hepatic ductal proliferation, and polydactyly . It belongs to a group of ciliopathies and is an autosomal recessive disease, most often caused by a mutation in MKS1 gene.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis and clinical significance of cephalocele—A single institution experience and literature review

et al. 2020

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Objectives:To determine the frequency of genetic and additional structural abnormalities as well as pregnancy outcomes in fetuses with prenatally diagnosed cephalocele. Methods: A retrospective analysis of data retrieved from ultrasound examinations and genetic testing in fetuses with cephalocele diagnosed between 2006 and 2018 in a tertiary referral hospital along with a systematic literature search in the PubMed database on fetuses with prenatally diagnosed cephalocele.Results: Twenty-one out of 36 fetuses were found to have additional structural anomalies (58.3%). In four fetuses, anomalies were consistent with limb-body wall complex, in five with Meckel-Gruber syndrome, and in one with amniotic band syndrome. Genetic abnormalities were present in 11.1% of fetuses (trisomy 6; microdeletion 22q11.21; microduplication 16p13.11; pathogenic variant in gene CC2D2A).Twenty-eight pregnancies were terminated (77.8%; 28/36); two were miscarried (5.6%; 2/36). All six children from pregnancies that continued were liveborn but only two survived the surgery and developed neurological sequence. Overall survival rate was 25% (2/8) with 0% intact survival.Conclusions: Additional structural anomalies are common in fetuses with cephalocele. A significant number of fetuses have genetic abnormalities, and a detailed genetic testing should be performed in all cases. The prognosis is poor with high mortality rate and 0% intact survival.

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“…Death usually is due to lung and kidney failure. 4 The most Table 1 Possible anomalies associated in Meckel--Gruber syndrome 7…”

Section: Case Reportmentioning

confidence: 99%

“…Signs, symptoms and posible findings constant and characteristic feature of MGS is the cystic dysplasia of the kidneys, followed by occipital encephalocele and polydactyly, which are present in 95 to 100%, 60 to 80%, and 55 to 75% of the patients, respectively. 7 Although the disease is characterized by a classic triad, many other anomalies are observed in MGS, as described in ►Table 1. 8 MGS can be diagnosed by ultrasonography before the 14th week of gestational age, when the classic triad is depicted.…”

Section: Systems Involvedmentioning

confidence: 99%

Meckel–Gruber Syndrome: Correlation between Ultrasound and Magnetic Resonance Assessment in a Fetal Case with Severe Oligohydramnios

Almeida

Centofanti

Carmo³

et al. 2020

Journal of Pediatric Neurology

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Meckel–Gruber syndrome (MGS) is a rare genetic condition determined by an autosomal recessive mutation and characterized by occipital cephalocele, postaxial polydactyly, and bilateral dysplastic cystic kidneys, besides many other findings. Antenatal ultrasonography can identify the major features, but in selected cases, magnetic resonance imaging (MRI) might help to obtain the correct diagnosis. We describe a well-documented case of MGS diagnosed by ultrasound in correlation with MRI findings.

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Meckel-Gruber Syndrome: Pathologic Manifestations, Minimal Diagnostic Criteria, and Differential Diagnosis

Cited by 74 publications

References 23 publications

Meckel-Gruber Syndrome (Dysencephalia Splanchnocystica)

Meckel-Gruber Syndrome (Dysencephalia Splanchnocystica)

Prenatal diagnosis and clinical significance of cephalocele—A single institution experience and literature review

Meckel–Gruber Syndrome: Correlation between Ultrasound and Magnetic Resonance Assessment in a Fetal Case with Severe Oligohydramnios

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