Mandibulo-acral dysplasia: heterogeneity versus variability.

Abstract excerpt

Several patients with mandibulo-acral dysplasia have been described, although it is becoming clear that the phenotype is quite variable, both with regards to clinical findings and age of onset. This is a review of the literature on mandibulo-acral dysplasia, as well as a discussion on variability versus heterogeneity in this entity.

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