Sotos syndrome is probably one of the most common overgrowth conditions, after the Beckwith-Wiedemann syndrome. The exact birth prevalence remains unknown. Hundreds of cases are reported. The literature on Sotos syndrome, before the identification of theNSD1gene responsibility, has to be read carefully...
27 Cerrato, F., Sparago, A., Verde, G., De Crescenzo, A., Citro, V., Cubellis, M. V. et al. Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith- Wiedemann syndrome and Wilms' tumour. Hum. Mol. Genet. 17, 1427–1435 (2008). 28 Higashimoto, K....
Meyer E, Lim D, Pasha S, Tee LJ, Rahman F, Yates JR, et al: Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). PLoS Genet. 2009, 5: e1000423. 10.1371/journal.pgen.1000423. PubMed Central PubMed Google Scholar Perez-Nanclares G, Roma...
33. Enklaar T, Zabel BU, Prawitt D: Beckwith-Wiedemann syndrome: multiple molecular mechanisms. Expert Rev Mol Med 2006, 8:1-19. 34. Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L, Houang M, Steunou V, Esteva B, Thibaud N, Demay MCR, Danton F, Petriczko ...
Similarly to Beckwith-Wiedemann syndrome, the risk for Wilms tumor seems to decrease after eight years of age; 2) Gonadoblastoma. Serial measurements of serum alpha fetoprotein and beta human chorionic gonadotropin concentrations (also for hepatoblastoma) is recommended [32]; 3) Neuroblastoma. ...
Beckwith–Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y 18q terminal deletionTranslocation t (1118Klinefelter syndromeChromosome Y inversionWe report on an infant who had been prenatally diagnosed with Klinef...
Meyer E, Lim D, Pasha S, Tee LJ, Rahman F, Yates JR, et al: Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). PLoS Genet. 2009, 5: e1000423. 10.1371/journal.pgen.1000423. PubMed Central PubMed Google Scholar Perez-Nanclares G, Roma...
Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome. Hum. Mol. Genet. 20, 1363–1374 (2011). CAS PubMed PubMed Central Google Scholar Demars, J., Shmela, M. E., Rossignol, S., Okabe, J., Netchine, I., ...
Brachydactyly (BD) refers to the shortening of the hands, feet or both. There are different types of BD; among them, type E (BDE) is a rare type that can present as an isolated feature or as part of more complex syndromes, such as: pseudohypopthyroidism (PHP), hypertension with BD ...