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San Diego type of platyspondylic lethal dysplasia.
Relevant markers:
CardiomegalyMacrocraniaNarrow thoraxNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaShort lower limbsShort upper limbsParents markers:EarsFaceMicromelia - armsShort limbs
References: 2009 Prenat Diagn Read on PubMed Login for more details.