CRANIOFACIAL ANTHROPOMETRIC ANALYSIS IN SEVERAL TYPES OF CHONDRODYSPLASIA

Craniofacial anthropometric analysis is a generally accessible techniq ue that potentially offers an objective tool to reduce the subjectivit y of syndrome diagnosis and to aid in differential diagnosis. The chon drodysplasias might seem an unlikely target for this technique in that they mainly cause disproportionate growth and are subject to radiogra phic diagnoses. However, the diagnosis of skeletal dysplasias remains challenged by subjectivity of radiologic assessment, and specific radi ologic signs may appear only with age or may no longer be present at t he time of examination. Thus patients continue to defy diagnosis, have their diagnosis changed, and/or be misdiagnosed, even in specialized centers. Certain chondrodysplasias have obvious craniofacial involveme nt while others appear to share a specific gestalt. This paper reports craniofacial anthropometric analysis for several of the more common c hondrodysplasias and confirms that some do display a characteristic pa ttern that is in keeping with what might be expected. Furthermore, the concurrent assessment of several different conditions by a single obs erver has emphasized the importance of considering the possibility of- systematic measurement error in any such studies. (C) 1996 Wiley-Liss, Inc.