Acampomelic campomelic dysplasia: Further radiographic variations

Acampomelic campomelic dysplasia (ACD) is a rare genetic syndrome affecting bone and connective tissue. This syndrome is a variant of the more commonly encountered campomelic dysplasia but is characterized by the absence of long bone curvature (acampomelia). Affected children have a characteristically flat facial profile and present with respiratory distress. They all have markedly hypoplastic scapulae. We present two sisters with ACD between whom there were some clinical and radiographic differences and also variations from the classic CD. We describe shallow orbits, a radiographic finding that has not been previously documented in this dysplasia. Am. J. Med. Genet. 69:29–32, 1997. © 1997 Wiley‐Liss, Inc.