Meckel-Gruber Syndrome

Louis‐Jacques, Adetola; Odibo, Anthony O.; Bradshaw, Rachael

doi:10.1016/b978-0-323-44548-1.00133-9

Cited by 2 publications

(2 citation statements)

References 21 publications

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“…This is consistent with current literature [ 8 , 9 ]. However, the phenotypic appearance can vary [ 10 , 11 ] even from pregnancy to pregnancy as some of our cases of families with repeated MKS showed. In our cohort, only 36.8% of fetuses showed all three classical features of the triad, which is comparable to other study findings [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

Fetal ciliopathies: a retrospective observational single-center study

Simonini

Floeck

Strizek

et al. 2021

Arch Gynecol Obstet

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Purpose Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. Methods Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ciliopathies, such as hyperechogenic kidneys together with polydactyly and/or other skeletal and extraskeletal findings. Cases were compared according to their prenatal findings and outcomes. Results 36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick–Kaufmann syndrome (MKKS, n = 4/36, 11.1%), Bardet–Biedl syndrome (BBS, n = 2/36, 5.5%) and Joubert syndrome (n = 1/36, 2.8%). All cases showed abnormalities of the kidneys, most often hyperechogenic parenchyma (n = 26/36, 72.2%), cystic dysplasia (n = 24/36, 66.7%), and/or bilateral kidney enlargement (n = 22/36, 61.1%). Oligohydramnios was mainly present in fetuses with MKS. Polydactyly (n = 18/36), abnormalities of the CNS (n = 25/36), and heart defects (n = 10/36) were associated in 50%, 69.4%, and 27.8%, respectively. Conclusion Prenatal detection of renal abnormalities associated with skeletal or brain abnormalities should raise the suspicion for multisystem ciliopathies. Prenatal ultrasound can help to differentiate between different diseases and pave the way for subsequent targeted genetic testing.

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Section: Discussionmentioning

confidence: 99%

Fetal ciliopathies: a retrospective observational single-center study

Simonini

Floeck

Strizek

et al. 2021

Arch Gynecol Obstet

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“…MKS is a rare, severe ciliopathy characterised by a severe multi-organ phenotype, that often results in embryonic or postnatal mortality 93,94 . To date causative genes corresponding to 60% of MKS cases have been identified, with the remaining molecular causes yet to be determined, hypothesised to exist either as uncommon or private mutations within single families 93 .…”

Section: Renal Ciliopathies With Extrarenal Manifestationsmentioning

confidence: 99%

Ciliopathies and the Kidney: A Review

McConnachie

Stow

Mallett

2021

American Journal of Kidney Diseases

148

107

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Meckel-Gruber Syndrome

Cited by 2 publications

References 21 publications

Fetal ciliopathies: a retrospective observational single-center study

Fetal ciliopathies: a retrospective observational single-center study

Ciliopathies and the Kidney: A Review

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