Madelung-type deformity in a female individual from the Merovingian Period in Central Germany: A rare finding or a rare disease?

OBJECTIVE: This paper presents a probable case of Madelung-type deformity of the right lower arm in an individual from the Merovingian burial ground (7th and 8 th century CE) from Gotha-Boilstädt (Germany).

MATERIALS: A female individual with an age-at-death of 40-50 years was investigated.

METHODS: Macroscopic, osteometric and radiographic analyses were performed using standard methods.

RESULTS: The individual exhibits an unusual case of dysmelia of the right upper extremity. The shoulder and upper arm displayed gracile muscle attachment marks and less robustness compared to the left side. The ulna was shortened and distorted and the radius was severely deformed.

CONCLUSIONS: The results indicate that the individual might have been affected by a unilateral Madelung-type deformity. The severity of this case is greater than that reported in the clinical literature.

SIGNIFICANCE: This study places an ancient rare disease into archaeological and paleopathological contexts, allowing for the evaluation of the term "ancient rare disease." It also highlights the importance of reporting rigorously diagnosed cases in order to raise our level of awareness of the incidence and course of this rare condition in the past.

LIMITATIONS: The diagnosis cannot be stated with certainty, and only a handful of possible diagnoses can be offered. Congenital and acquired etiologies must be considered, especially when compared with clinical cases where severity of conditions may be modified by medical intervention.

SUGGESTIONS FOR FURTHER RESEARCH: Genetic analysis might be helpful in the determination of the etiology of the observed Madelung-type deformity.