Acampomelic campomelic dysplasia with SOX9 mutation

Acampomelic campomelic dysplasia is a rare clinical variant of the more com monly encountered campomelic dysplasia (CMD1), characterized by absence of long bone curvature (acampomelia), We present a patient with acampomelic CM D1 with a de novo SOX9 missense mutation and report his clinical course to age one year, thereby contributing to genotype-phenotype correlation in CMD 1. (C) 2000 Wiley-Liss, Inc.