Congenital axis dysmorphism in a medieval skeleton
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We describe here the axis dysmorphism that we observed in the skeletal remains of a human child dug up from a fifteenth century cemetery located in north-eastern Italy. This bone defect is discussed in the light of pertinent literature.
We performed macroscopical examination and CT scan analysis of the axis.
Axis structure was remarkably asymmetric. Whilst the left half exhibited normal morphology, the right one was smaller than normal, and its lateral articular surface showed horizontal orientation. In addition, the odontoid process appeared leftward deviated and displayed a supplementary articular-like facet situated on the right side of its surface.
These findings suggest a diagnosis of unilateral irregular segmentation of atlas and axis, a rare dysmorphism dependent upon disturbances of notochordal development in early embryonic life. Likewise other malformations of the craniovertebral junction, this axis defect may alter the delicate mechanisms of upper neck movements and cause a complex series of clinical symptoms. This is an emblematic case whereby human skeletal remains may provide valuable information on the anatomical defects of craniovertebral junction.
KeywordsAtlas–axis dysmorphisms Unilateral irregular segmentation Craniovertebral junction Paleopathology
This work was supported by local funds from Ministero dell’Istruzione, dell’Università e della Ricerca, Rome, to the Department of Experimental and Clinical Medicine, Section of Human Anatomy, University of Udine, Italy. The authors are indebted with Dr. Marco Giordano for his kind support in taking photographs of Gorizia and to Soprintendenza per i Beni Archeologici del Friuli Venezia Giulia, for access to skeletal material.
Conflict of interest
The authors declare that they have no conflict of interest.
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