Williams - Beuren syndrome

Williams - Beuren syndrome Relevant markers:

Aortic valve stenosisAtrial septal defect (ASD)Broad anterior fontanelleChoroid plexus cyst (CPC)Clinodactyly 5th fingerCoarctation of aortaEarly IUGR/SGAEchogenic bowelEverted lower lipFrontal bossingHigh foreheadLong philtrumLow set ear/sMicrognathia/retrognathiaNasal bone hypoplasia / aplasiaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaOmphalocelePulmonary valve stenosisRhizomelia/short femurSymmetric IUGR/SGATetralogy of Fallot (TOF)

Parents markers:

Abnormal sulcationInterrupted aortaIntrauterine growth retardation (IUGR/SGA/FGR)Pyelectasis/hydronephrosisVentricular septal defect (VSD)Ventriculomegaly

Incidence:

1/10000 — 1/7500

Involved genes:
(gene — definition — chromosome)

7q11.23

Other online databases:

OMIM

References:

2009	Prenat Diagn		Read on PubMed
2011	Am J Obstet Gynecol	Case Report	Read on PubMed
2014	Clin Case Rep	Case series	Read on PubMed
2019	Fetal Pediatr Pathol	Case series	Read on PubMed