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Thanatophoric dysplasia type I
Relevant markers:
Anal atresiaAtrial septal defect (ASD)Bowed bonesBowed femurBowed humerusBrachydactyly of fingersBrachydactyly of toesDepressed nasal bridgeDysplastic tricuspid valve Horseshoe kidneyHypoplastic thoracic cageLow nasal bridgeMetaphyseal cupping of femurMetaphyseal cupping of humerusNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPolyhydramniosProminent foreheadRadius-ulna fusionRhizomelia/short femurRhizomelia/short humerusSevere micromeliaTrident handParents markers:MacrocephalyMicromelia - armsPlatyspondylyPyelectasis/hydronephrosis
Incidence: - — 1/10000 Male — Female Ratio: 2 — 1 Other online databases: OMIM References: 2008 Fetal Diagn The Read on PubMed Login for more details.