Detecting an Undiagnosed Case of Nonsyndromic Facial Dysmorphism Using Geometric Morphometrics

Abstract

The Johns Hopkins University Center for Craniofacial Development and Disorders estimates that 1 in 3,000 children born in the United States is diagnosed with a rare form of craniosynostosis. Although the medical literature has documented numerous descriptions of craniofacial disorders from an anthropometric or genetic perspective, considerably fewer reports of these anomalies have been documented in the context of forensic anthropology. Similar genetic origins of many craniofacial anomalies generate ranges of phenotypic variation between and even within documented cases, producing difficulties in acquiring correct diagnoses. Identical physical characteristics manifested in different disorders create further complications in identifying a craniofacial syndrome in skeletal remains. Reported here is an unusual case of a possibly undiagnosed craniofacial abnormality in a set of identified skeletal remains from a North Carolina homicide case. Traditional metric and geometric morphometric approaches were utilized to further investigate morphological shape differences between the case study and a reference sample. Results show significant differences suggesting a nonsyndromic form of craniosynostosis.