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Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.
Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C. Barisic I, et al. Eur J Hum Genet. 2015 Jun;23(6):746-52. doi: 10.1038/ejhg.2014.174. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182137 Free PMC article.
In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). …
In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system …
Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
Erger F, Brüchle NO, Gembruch U, Zerres K. Erger F, et al. Arch Gynecol Obstet. 2017 Apr;295(4):897-906. doi: 10.1007/s00404-017-4336-6. Epub 2017 Mar 10. Arch Gynecol Obstet. 2017. PMID: 28283827
Sonographically visible kidney cysts occurred in only 3% of ARPKD cases. Renal abnormalities in Meckel syndrome (MKS) appeared earlier than in ADPKD (19.6 3.7 vs. 29.8 5.1 GW) or ARPKD (19.6 3.7 vs. 30.2 1.2 GW). ...
Sonographically visible kidney cysts occurred in only 3% of ARPKD cases. Renal abnormalities in Meckel syndrome (MKS) appeared …