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  • Meckel-Gruber syndrome type I Relevant markers:
    Adrenal agenesisAgenesis of vermisAnal atresiaAortic valve stenosisArnold-Chiari malformationAtrial septal defect (ASD)Bell shaped thoracic cageClinodactyly 5th fingerCoarctation of aortaCollapsed bladderDandy Walker malformationDuplex collecting systemEchogenic kidney/sHorseshoe kidneyHypertelorismHypoplastic aortaHypoplastic bladderHypoplastic lung/sHypospadias/tulip signHypotelorismLarge kidney/sMicrocephalyMicrognathia/retrognathiaMulticystic dysplastic kidney/sNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaOligohydramniosOmphalocelePolycystic (enlarged echogenic) kidney/sPostaxial polydactyly of fingersPulmonary valve stenosisSingle umblical artery (SUA)Small kidney/sTalipesThick placentaUndescended testesPosterior encephalocele
    Parents markers:
    Agenesis of corpus callosum (ACC)Ambiguous genitaliaBrainCleft in hard palateEarsHeartHoloprosencephalyHypoplasia/atrophy of cerebellumIntrauterine growth retardation (IUGR/SGA/FGR)MicrocephalyMicrophthalmiaPolydactyly of hand/sRenal agenesisShort limbsSyndactyly of fingersVentriculomegalyVentricular septal defect (VSD)