[Reinhardt-Pfeiffer mesomelic dysplasia or dyschondrosteosis? Is the distinction well-founded? Apropos of a familial case with variable expression].

Abstract excerpt

A familial observation of Reinhardt-Pfeiffer type mesomelic chondrodysplasia spanning three generations is reported. This case clearly shows that expression of the disease can vary widely within a given family. One member affected as a fetus had a severe form suggesting Langer mesomelic dwarfism syndrome, whereas his mother was free of clinical symptoms and his maternal aunt had a typical form of...

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