Possible Achondroplastic Dwarf Skull from Montevideo, Uruguay

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• 作者：Joseph T. Hefner and Michael W. Warren
• 刊名：Journal of Forensic Sciences
• 出版年：2016
• 出版时间：November 2016
• 年：2016
• 卷：61
• 期：6
• 页码：1671-1677
• 全文大小：472K
• ISSN：1556-4029

文摘

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.