title: Possible Achondroplastic Dwarf Skull from Montevideo, Uruguay.
abstract: 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.
authors.affiliation: Department of Anthropology, Michigan State University, East Lansing, MI, 48824.
authors.forename: Joseph T
authors.initials: JT
authors.lastname: Hefner
authors.affiliation: Department of Anthropology, University of Florida, Gainesville, FL, 32605.
authors.forename: Michael W
authors.initials: MW
authors.lastname: Warren
mesh_terms: D000130:Achondroplasia; D002508:Cephalometry; D006801:Humans; D012886:Skull / Q000002:abnormalities*; D014583:Uruguay
keywords: achondroplasia; chondrodystrophy; forensic anthropology; forensic science; geometric morphometrics; malformation; midfacial hypoplasia