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Thanatophoric dysplasia type II
Relevant markers:
Anal atresiaAtrial septal defect (ASD)Cloverleaf shapeDysplastic tricuspid valve ExophthalmiaFrontal bossingHorseshoe kidneyHydropsHypoplastic thoracic cageIndented choroid plexusNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPolyhydramniosRadius-ulna fusionSevere micromeliaShort upper limbsDilated 3rd ventricleParents markers:FemurHoloprosencephalyPyelectasis/hydronephrosisThorax shapeVentriculomegaly
Other online databases: OMIM References: 2014 Congenit Anom (Kyoto) Case report Read on PubMed 2014 Ultrasound Obstet Gynecol Read on PubMed Login for more details.