Achondroplasia (chondrodystrophia) is an autosomal dominant inherited disorder affecting approximately 1 in 26,000 live births and is the most common cause of dwarfism in humans. Disproportionate short stature and a suite of craniofacial characteristics typify achondroplasia. The literature available for differential diagnosis of the disorder relies primarily on the postcranial skeleton. In this paper, a possible case of achondroplasia is presented. The cranium presents a unique suite of cranial and craniofacial dysmorphologies. The lack of postcranial remains does not permit their use in the analysis. To make a differential diagnosis and to quantify the observed craniofacial dysmorphologies, craniometric data are compared to modern clinical literature and to craniometric data from known achondroplastic dwarfs. Thin-plate spline analysis is integrated to quantify the differences in degree and magnitude of shape change. This manuscript demonstrates an appropriate methodology for identifying achondroplasia from the cranial skeleton alone.
Keywords: achondroplasia; chondrodystrophy; forensic anthropology; forensic science; geometric morphometrics; malformation; midfacial hypoplasia.
© 2016 American Academy of Forensic Sciences.