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Thanatophoric dysplasia
A primary bone dysplasia with micromelia characterized by macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.
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Kozlowski Warren Fisher syndrome 0 trials
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Thanatophoric dysplasia type 1 0 trials