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Beckwith-Wiedemann syndrome
Relevant markers:
CryptoorchidismCystic placentaEchogenic kidney/sHC/FL > 95th percentileHemihypertrophyHepatomegalyHigh AFPHigh beta HCGHypospadias/tulip signLarge kidney/sMacroglossiaMacrosomiaMaternal ovarian hyperstimulationNephromegalyNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaOmphalocelePancreatic cystPlacentomegalyPolycystic (enlarged echogenic) kidney/sPolyhydramniosRhabdomyoma of heartSolid renal massThick placentaUndescended testesVisualized pancreasCongenital diaphragmatic hernia (CDH)Parents markers:Cardiomyopathy
Incidence: 1/13700 — - Involved genes:
(gene — definition — chromosome)CDKN1C — 11p15.4, H19 — 11p15.5, KCNQ10T1 — 11p15.5, NSD1 — 5q35.2-q35.3 Inheritance mode: AD, Hypomethylation, Sporadic (new mutation) Other online databases: OrphaNet, OMIM, Geneva Foundation, Jablonski's Database References: 1990 J Clin Ultrasound Case report Read on PubMed 1991 Prenat Diagn Review Read on PubMed 1998 Prenat Diagn Case report Read on PubMed 2001 J Clin Ultrasound Case report 2005 Prenat Diagn Two cases and review of the literature Read on PubMed 2011 Urology Case report Read on PubMed 2011 Arch Gynecol Obstet Case report Read on PubMed 2014 Taiwan J Obstet Gynecol Case report Read on PubMed 2014 J Clin Ultrasound Case report Read on PubMed 2015 Gynecol Obstet Fertil Case series of 14 cases (article in French) Read on PubMed 2015 Prenat Diagn Case series12 cases Read on PubMed Login for more details.