Craniofacial anthropometric analysis is a generally accessible technique that potentially offers an objective tool to reduce the subjectivity of syndrome diagnosis and to aid in differential diagnosis. The chondrodysplasias might seem an unlikely target for this technique in that they mainly cause disproportionate growth and are subject to radiographic diagnoses. However, the diagnosis of skeletal dysplasias remains challenged by subjectivity of radiologic assessment, and specific radiologic signs may appear only with age or may no longer be present at the 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 involvement while others appear to share a specific gestalt. This paper reports craniofacial anthropometric analysis for several of the more common chondrodysplasias and confirms that some do display a characteristic pattern that is in keeping with what might be expected. Furthermore, the concurrent assessment of several different conditions by a single observer has emphasized the importance of considering the possibility of systematic measurement error in any such studies.