Two stillborn male sibling fetuses born to the same parents had severe mesomelic dysplasia documented at ultrasound and confirmed by radiography and autopsy. The 17-week-old fetus with increased neck translucency had additional heart and great vessel anomalies consistent with tetralogy of Fallot. The 15-week-old fetus had a nuchal cystic hygroma. We posit that these sibs have a distinct, previously unreported skeletal dysplasia. The mode of genetic transmission could be autosomal recessive or X-linked recessive.
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