Klippel–Feil syndrome with associated cervical rib in a human skeleton from Wągrowiec (Poland, 14th–17th centuries)

Abstract

This paper presents congenital anomalies characteristic of Klippel–Feil syndrome, type II, diagnosed in the skeleton of a young to middle‐aged woman uncovered in a cemetery adjacent to the Church of St. Jacob the Apostle in Wągrowiec (Poland), from a grave within an archaeological layer dated to the 14th–17th centuries. A rare type of fusion was identified between the sixth and seventh cervical vertebrae only, co‐occurring with a well‐developed right cervical rib fused to the shaft of the first thoracic rib and articulated via synovial joints with the seventh cervical vertebra. The fusion of the cervical vertebrae involved their bodies, right laminae, and parts of the right articular processes. The interpretation of the presence of Klippel–Feil syndrome is additionally supported by the absence of any evidence of trauma in the cervical region of the spine or of pathological changes in the skeleton indicative of diffuse idiopathic skeletal hyperostosis or ankylosing spondylitis. The formation of Schmorl's nodes and degenerative changes in apophyseal joint surfaces diagnosed in the cervical vertebrae were probably secondary in relation to the observed congenital anomalies. Additionally, examinations revealed ossified insertions of the ligamentum flavum and degenerative changes of the vertebrae in the lower region of the spine as well as incomplete posterior bridge of the atlas, torus mandibularis, and humerus septal aperture.

Patologías congénitas y defectos del desarrollo en poblaciones arqueológicas en la costa desértica de Antofagasta: reflexiones sobre su origen a partir de casos de estudio

“…Adicionalmente, se debe establecer que se han reconocido cuatro tipos de KP (García Pérez y García Moreno, 2011; Guapi y Frikha, 2020): el KP Tipo I, corresponde a la fusión masiva de vértebras cervicales con afectación en vértebras torácicas y tiene un origen en un gen autosómico recesivo; el Tipo II, corresponde a la fusión de uno o dos espacios vertebrales, los que incluyen potencialmente la fusión occipito-atloidea y se asocia a otras anomalías vertebrales, siendo una expresión variable dentro de un grupo familiar asociado a un gen autosómico dominante; el Tipo III, que corresponde a fusión de al menos vértebras cervicales y torácicas e incluso lumbares, asociada a un gen autosómico recesivo; y el Tipo IV, correspondiente a la fusión de vértebras cervicales, probablemente ligada al cromosoma X, que además genera trastornos oftalmológicos. Con esto en mente, creemos que los casos observados en los sitios Punta Blanca y El Vertedero corresponderían al KP tipo II o Tipo III, tal como ocurre en varios otros casos de estudio arqueológico (Fernandes y Costa, 2007;Fabra y Salega, 2014;Drupka et al, 2019;Titelbaum, 2020, Hukelova y Kroslakova, 2021, por nombrar solo algunos).…”

Cervical ribs in human early life: morphological variability and first identification as a morbidity criterion in a past population

“…Furthermore, the available data also only describe modern populations. Some individual case studies of cervical ribs in the archaeological record have been published (Denninger, 1931;Drupka et al 2019), but no archaeological collection has been comprehensively assessed for cervical rib frequencies up until now. The excavation of the Classic Kerma necropolis 8B-51 on Saï Island (Sudan), however, led to the discovery of many individuals who died at a very young age, many of them with cervical ribs (Murail et al 2004;Murail and Geus, 2006).…”