Skeletal Anomalies in The Neandertal Family of El Sidrón (Spain) Support A Role of Inbreeding in Neandertal Extinction.

Neandertals disappeared from the fossil record around 40,000 bp, after a demographic history of small and isolated groups with high but variable levels of inbreeding, and episodes of interbreeding with other Paleolithic hominins. It is reasonable to expect that high levels of endogamy could be expressed in the skeleton of at least some Neandertal groups. Genetic studies indicate that the 13 individuals from the site of El Sidrón, Spain, dated around 49,000 bp, constituted a closely related kin group, making these Neandertals an appropriate case study for the observation of skeletal signs of inbreeding. We present the complete study of the 1674 identified skeletal specimens from El Sidrón. Altogether, 17 congenital anomalies were observed (narrowing of the internal nasal fossa, retained deciduous canine, clefts of the first cervical vertebra, unilateral hypoplasia of the second cervical vertebra, clefting of the twelfth thoracic vertebra, diminutive thoracic or lumbar rib, os centrale carpi and bipartite scaphoid, tripartite patella, left foot anomaly and cuboid-navicular coalition), with at least four individuals presenting congenital conditions (clefts of the first cervical vertebra). At 49,000 years ago, the Neandertals from El Sidrón, with genetic and skeletal evidence of inbreeding, could be representative of the beginning of the demographic collapse of this hominin phenotype.

Longstanding dental pathology in Neandertals from El Sidrón (Asturias, Spain) with a probable familial basis.

Two Neandertal specimens from El Sidrón, northern Spain, show evidence of retained left mandibular deciduous canines. These individuals share the same mitochondrial (mtDNA) haplotype, indicating they are maternally related and suggesting a potential heritable basis for these dental anomalies. Radiographs and medical CT scans provide evidence of further, more extensive dental pathology in one of these specimens. An anomalous deciduous canine crown morphology that developed before birth subsequently suffered a fracture of the crown exposing the pulp sometime after eruption into functional occlusion. This led to death of the tooth, periapical granuloma formation and arrested deciduous canine root growth at an estimated age of 2.5 years. At some point the underlying permanent canine tooth became horizontally displaced and came to lie low in the trabecular bone of the mandibular corpus. A dentigerous cyst then developed around the crown. Anterior growth displacement of the mandible continued around the stationary permanent canine, leaving it posteriorly positioned in the mandibular corpus by the end of the growth period beneath the third permanent molar roots, which, in turn, suggests a largely horizontal growth vector. Subsequent longstanding repeated infections of the expanding cyst cavity are evidenced by bouts of bone deposition and resorption of the boundary walls of the cyst cavity. This resulted in the establishment of two permanent bony drainage sinuses, one through the buccal plate of the alveolar bone anteriorly, immediately beneath the infected deciduous canine root, and the other through the buccal plate anterior to the mesial root of the first permanent molar. It is probable that this complicated temporal sequence of dental pathologies had an initial heritable trigger that progressed in an unusually complex way in one of these individuals. During life, this individual may have been largely unaware of this ongoing pathology.