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Emanuel Syndrome
Relevant markers:
Atrial septal defect (ASD)Coarctation of aortaDandy Walker malformationDouble bubble/duodenumEchogenic bowelMicrognathia/retrognathiaMicropenisMild ventriculomegaly (12-15 mm)Nuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaRocker-bottom feetLow PAPP-AParents markers:Cleft in hard palateEarsEchogenic fociGenitalsHeartIntrauterine growth retardation (IUGR/SGA/FGR)Pyelectasis/hydronephrosis
Involved genes:
(gene — definition — chromosome)22q11.2 References: 2012 Arch Gynecol Obstet Case series of 5 cases Read on PubMed Login for more details.