Monsters and the case of L. Joseph: André Feil's thesis on the origin of the Klippel-Feil syndrome and a social transformation of medicine

Abstract

<jats:p>André Feil (1884–1955) was a French physician best recognized for his description, coauthored with Maurice Klippel, of patients with congenital fusion of cervical vertebrae, a condition currently known as Klippel-Feil syndrome. However, little is known about his background aside from the fact that he was a student of Klippel and a physician who took a keen interest in describing congenital anomalies. Despite the relative lack of information on Feil, his contributions to the fields of spinal disease and teratology extended far beyond science to play an integral role in changing the misguided perception shrouding patients with disfigurements, defects, deformities, and so-called monstrous births. In particular, Feil's 1919 medical school thesis on cervical abnormalities was a critical publication in defying long-held theory and opinion that human “monstrosities,” anomalies, developmental abnormalities, and altered congenital physicality were a consequence of sinful behavior or a reversion to a primitive state. Indeed, his thesis on a spinal deformity centering on his patient, L. Joseph, was at the vanguard for a new view of a patient as nothing less than fully human, no matter his or her physicality or appearance.</jats:p>

Conjoined first (atlas) and second (axis) cervical vertebrae in an eastern wapiti (Cervus canadensis canadensis) from the Angel Site (1000–1400 CE, Indiana, USA)

“…The term fused does not accurately describe this condition, since the atlas and axis vertebrae were never separate bones in the Angel specimen, as evidenced by the lack of remnants of the atlantoaxial joint (Figure 1). Rotation at the atlantoaxial joint was The human analog, Klippel-Feil syndrome, is heterogenous, consisting of three distinct clusters of features and four associated mutations (Belykh et al, 2016;Frikha, 2020). CV1-2 block vertebra is uncommon in humans compared with the other clusters.…”

“…The human analog, Klippel–Feil syndrome, is heterogenous, consisting of three distinct clusters of features and four associated mutations (Belykh et al, 2016; Frikha, 2020). CV1–2 block vertebra is uncommon in humans compared with the other clusters.…”

Images in Spine: A Rare Abnormal Bony Fusion

“…KFS Type 1 has a single congenitally fused cervical segment, KFS Type 2 has multiple noncontiguous fused cervical segments, and KFS Type 3 has multiple contiguous fused cervical segments [ 4 ]. KFS was first identified by Maurice Klippel and André Fiel in 1912, on a radiograph [ 5 ]. Tracking the prevalence of KFS is problematized by its heterogeneous presentation, as it may remain undiagnosed for long periods of time.…”

Epónimos: vidas más allá de la cirugía

“…Pese a que el reporte original estableció "ausencia de vértebras cervicales", en el texto describieron una vértebra de bloque único desde C2 a C7, con seis forámenes neurales y un canal para la arteria vertebral bilateralmente, así como un atlas occipitalizado. Su caso resaltó por la falla de literatura médica para identificar un caso similar, el cuestionamiento del reporte de sus hallazgos como "una monstruosidad en vez de una variación regresiva o progresiva" y la concepción de que las anomalías morfológicas podían ser explicadas desde una base atavística u ontológica " (62)(63).…”

“…Escribió libros de neurología y psiquiatría que en esa época no eran consideradas especialidades tan impor-tantes como lo son actualmente; también describió numerosas anomalías relacionadas como agenesia renal unilateral, alteraciones cardiacas congénitas, escoliosis congénita y múltiples trastornos del sistema nervioso central. Su mayor aporte fue en el campo de la neurocirugía, disciplina en la que ampliamente se aceptó que la presencia de fusión congénita de por lo menos un segmento de movimiento cervical único es considerada como caso de síndrome de Klippel-Feil, cuya prevalencia era bastante común, con reportes entre 0,2 y 0,8 por cada 100 personas (62)(63).…”