Meckel–Grüber syndrome: sonography and pathology

Ickowicz, V.; Eurin, D.; Maugey-Laulom, B.; Didier, F; Garel, Catherine; Gubler, Marie–Claire; Laquerrière, Annie; Avni, Efraim

doi:10.1002/uog.2708

Cited by 52 publications

(21 citation statements)

References 17 publications

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“…The mean gestational age at diagnosis is 19 weeks. 4 However, some reports have suggested an early diagnosis (in the first trimester) may be possible and preferable. 5 , 6 MKS is an invariably fatal disorder, however Gazioglu et al reported an unusual case of MKS with a good outcome initially with appropriate treatment and the infant dying at 7 months of age.…”

Section: Discussionmentioning

confidence: 99%

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Meckel Gruber Syndrome: Second trimester diagnosis of a recurrent case in a non-consanguineous marriage

et al. 2012

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Meckel-Gruber Syndrome (MKS) is a rare, autosomal recessive genetic disorder, incompatible with life. It is characterized by enlarged polycystic kidneys and post axial polydactyly. Foetal or neonatal death is caused by pulmonary hypoplasia. We report a case of a 35 year old woman who presented at 7 weeks of gestation of her sixth pregnancy. A transabdominal anomaly ultrasound performed for her current pregnancy at 18 weeks of gestation showed features consistent with MKS. The termination of pregnancy was declined and a live newborn female was delivered via an emergency caeserean section at 34 weeks of gestation due to previous history of lower segment caesarean section (LSCS) & leaking. Physical examination of the neonate confirmed the features of MKS. The neonate died within 4-5 hours of birth. This case represented a second trimester diagnosis of a recurrent case of MKS in a non-consanguineous marriage.

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Section: Discussionmentioning

confidence: 99%

“…4 Chromosomal analysis has revealed chormosome 17 to be linked to MKS. 10 The mortality of MKS is 100% with IUD or death soon after birth.…”

Section: Discussionmentioning

confidence: 99%

Meckel Gruber Syndrome: Second trimester diagnosis of a recurrent case in a non-consanguineous marriage

et al. 2012

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“…The mean gestational age at diagnosis is 19 weeks. 7 In such cases, a-fetoprotein (AFP) levels rise in maternal serum between 11 and 16 weeks of gestation. 3 Chromosome analysis by amniocentesis or chorionic villous sampling is also an important diagnostic method.…”

Section: Meckel Gruber Syndrome 91mentioning

confidence: 99%

Meckel Gruber syndrome, A case report

Aslan

Orhan

et al. 2015

Organogenesis

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ABSTRACT. Introduction: Meckel-Gruber Syndrome was first described by J R Meckel in 1822. It is an autosomal recessive disorder, and is caused by the failure of mesodermal induction. The typical triad of Meckel-Gruber Syndrome (MGS) involves meningo-encephalocele, polycystic kidneys and postaxial polydactyly. The worldwide incidence varies from 1 in 1.300 to 1 in 140.000 live births.Case: In this report, we present a case of MGS in which the diagnosis was made at 19 weeks of gestation based on ultrasonographic findings of the typical triad of the disease (encephalocele, polycystic kidneys, and polydactyly) These features were suggestive of the diagnosis of Meckel Gruber Syndrome (MGS). She had also placenta previa totalis. The patient was counselled regarding the lethal outcome of MGS. Unfortunately, the family did not approve the termination of pregnancy. At the 32nd week, she referred to hospital with complaints of vaginal bleeding and uterine contractions. An emergency cesarean section was perfomed due to plasental malposition. A 1380 gr, female fetus was delivered. First and 5th minute Apgar scores were 1 and 0, respectively. Consequently, the baby died after 45 minutes of neonatal resuscitation.Conclusıon: MGS is a lethal disorder. One cannot speak about survival of the fetus because of the pulmonary hypoplasia. The parents should be counseled about prognosis of the fetus and the outcome. Counselers should strictly give information about the recurrence risk for the next pregnancies.

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“…The mean gestational age at diagnosis is 19 weeks. 10 Its almost always fatal, baby die in utero or shortly after birth due to pulmonary hypoplasia and neonatal renal failure. 11,12 OMIM online article number 24900019 has given list of 12 types of MKS with mutation on gene locus of that particular chromosome.…”

Section: Introductionmentioning

confidence: 99%

Meckel Gruber Syndrome: a rare case report

Verma

Sharma

Suthar

et al. 2017

Int J Contemp Pediatr

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Meckel gruber syndrome or dysencephalia splanchnocystica, is a rare autosomal recessive disorder caused by failure of mesodermal induction. Worldwide incidence of MGS is 1 per 13,500-140,000 live births. It is characterized by triad of occipital Meningoencephalocele, polycystic kidneys and post-axial polydactyly. Most fetuses affected with this syndrome die before birth due to oligohydramnios, renal failure or pulmonary hypoplasia. We report a rare case of MGS who delivered live at birth with classical features.

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Meckel–Grüber syndrome: sonography and pathology

Abstract: Objective To define a specific sonographic pattern for the appearance of the kidneys in fetuses affected by Meckel-Grüber syndrome (MGS). Methods

Cited by 52 publications

References 17 publications

Meckel Gruber Syndrome: Second trimester diagnosis of a recurrent case in a non-consanguineous marriage

Meckel Gruber Syndrome: Second trimester diagnosis of a recurrent case in a non-consanguineous marriage

Meckel Gruber syndrome, A case report

Meckel Gruber Syndrome: a rare case report

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