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Gracile bone dysplasia
Relevant markers:
AscitesBowed radiusBowed ulnaClinodactyly 5th fingerFlat nasal bridgeHydropsHypoplastic noseMicrognathia/retrognathiaMicrostomiaProminent foreheadSevere micromeliaShort philtrumSplenic hypoplasiaTurricephalyNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaParents markers:Hypoplasia/atrophy of cerebellum
References: 2008 Am. J. Med. Genet Read on PubMed Login for more details.