Osteological evidence of achondroplasia in an individual from medieval Reusel, the Netherlands

Catelijne I. Nater, Frans C.W.J. Theuws, Andrea L. Waters-Rist

Abstract


Archaeological excavations in Reusel (North-Brabant, the Netherlands) revealed a medieval church and a cemetery (10th-15th century AD) with 493 interments. Among these was an adult individual with severely shortened limb bones resulting in a stature estimate of 112.6 to 117.8 +/- 3.27 cm. The bones of this individual were not in anatomical position, suggesting a secondary burial or disturbance of a primary burial when the first gothic church (15th century AD) was built. As a result, only a femur, humerus, ulna, clavicle, and partial pelvis were recovered. While the long bones of upper and lower limbs are markedly shortened, and have additional morphological alterations, the clavicle is of more normal size and morphology, suggesting the individual was affected by a form of disproportionate dwarfism. A differential diagnosis finds the anomalies are most likely the result of the autosomally dominant mutation achondroplasia, a genetic disorder that occurs in about one in 10,000-40,000 births. Around thirty cases of achondroplasia have been reported in the archaeological record, with this individual being among the shortest yet documented. Examination of this individual contributes to our palaeopathological knowledge of dwarfism and sheds light on how Dutch medieval society regarded such individuals.

Keywords


Skeletal dysplasia; short-limbs; Middle Ages

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