Fusion of cervical vertebrae from a basal archosauromorph from the Middle Triassic Denwa Formation, Satpura Gondwana Basin, India.

This report describes two adjacent, longitudinally-fused anterior cervical vertebrae from a basal archosauromorph. The specimen was collected from the Denwa Formation, Satpura Gondwana Basin, India. The differential diagnosis of the fusion includes genetic or environmentally-mediated congenital malformations, nonspecific spondyloarthopathy, and various infectious agents. These observations represent the first published recognition of archosauromorph vertebral pathology from specimens that were discovered in India. The observations affirm that basal archosauromorphs suffered from disorders that have been observed in later dinosaurs and modern-day vertebrates. Considering the process of orderly differential diagnosis is an important aspect of understanding lesions of ancient bones.

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.

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.

The intriguing history of vertebral fusion anomalies: the Klippel-Feil syndrome.

INTRODUCTION: Our knowledge and understanding of vertebral fusion, defined and eponymously known as Klippel-Feil syndrome in the early 1900s, have a long history. This uncommon finding has been identified as early as 500 B.C. in an Egyptian mummy. Many more examples of spinal vertebra fusion have been described by Greek historians and recovered by archeologists demonstrating this entity's rich history. CONCLUSIONS: Klippel-Feil syndrome is a rare skeletal anomaly characterized by abnormal fusion of two or more vertebrae. With the advent of newer molecular technology and genetic discoveries, we now have a better understanding of the etiology and possible pathogenesis of this disease.

The illnesses of Carlo di Ferdinando I de' Medici: a second opinion.

OBJECTIVES: To offer a second opinion on the recently published retrospective diagnosis of Cardinal Carlo de' Medici (1596-1666), a prominent member of the grand ducal family then ruling Tuscany. METHODS: Retrospective diagnosis of historical figures is difficult and at times controversial, even with modern technology. It is based on contemporaneous medical descriptions and historical reviews, inherited iconography, and rarely - as in the case of the Medici of Florence - skeletal assessment, completed with radiological, histological and even immunological studies. Modern clinical work is often complemented with a second opinion obtained from specialists in the relevant fields. It is this type of second opinion that our collaborative Australian and Italian team, comprised of an orthopaedic/spinal surgeon, a rheumatologist and two medical historians, now offers. RESULTS: The authors concur with the first opinion's diagnosis of Klippel-Feil syndrome in Carlo de' Medici, but disagree with the diagnoses of tuberculosis (Pott's disease) and rheumatoid arthritis. We find evidence, instead, for a psoriatic-DISH arthropathy with involvement of Klippel-Feil syndrome. CONCLUSIONS: A psoriatic-DISH arthropathy, previously described by the present authors as the 'Medici syndrome', was commonly found in the males of the primary branch of the family. The diagnosis of this condition in Cardinal Carlo de' Medici represents its first identification in a male of the secondary (grand ducal) branch of the family.

Rheumatoid arthritis, Klippel-Feil syndrome and Pott's disease in Cardinal Carlo de' Medici (1595-1666).

OBJECTIVE: A paleopathological study was carried out on the she skeletal remains of Cardinal Carlo de' Medici (1595-1666), son of the Grand Duke Ferdinando I (1549-1609) and Cristina from Lorraine (1565-1636), to investigate the articular pathology described in the archival sources. METHODS: The skeletal remains of Carlo, buried in the Basilica of San Lorenzo in Florence, have been exhumed and submitted to macroscopic and radiological examination. RESULTS: The skeleton of Carlo revealed a concentration of different severe pathologies. Ankylosis of the cervical column, associated with other facial and spine anomalies suggests a diagnosis of congenital disease: the Klippel-Feil syndrome. In addition, the cervical segment presents the results of the tuberculosis (Pott's disease) from which the Cardinal suffered in his infancy. The post-cranial skeleton shows an ankylosing disease, mainly symmetrical and extremely severe, involving the large as well as small articulations, and characterized by massive joint fusion, that totally disabled the Cardinal in his last years of life. CONCLUSIONS: The final diagnosis suggests an advanced, ankylosing stage of rheumatoid arthritis.

Klippel-Feil syndrome with other associated anomalies in a medieval Portuguese skeleton (13th-15th century).

Klippel-Feil syndrome, or synostosis of the cervical spine, is the result of an abnormal division of somites during embryonic development. This report analyses an adult male (exhumed from a Portuguese graveyard dating from the 13th to the 15th century) with malformations in the cranium and vertebral column. Besides the lesions that are typical of Klippel-Feil syndrome type II, other defects usually linked to this pathology are described (occipito-atlantal fusion, hemivertebrae, butterfly vertebrae, cervical rib, changes in normal number of vertebral segments and a possible Sprengel deformity).

[G. F. d'Acquapendente and Don Carlo Medici's gibbosity]. / Alla corte dei medici: Girolamo Fabrizio d'Acquapendente e la "Gobba" di Don Carlo.

Don Carlo dei Medici (1595-1666) is the son of Ferdinando I (1549-1609), Granduca of Tuscany, and becomes Cardinal of Catholic Roman Church in 1615. In 1604 Fabrizio d'Acquapendente is called in Florence to treat him, because of an aggravation of his health, and of his congenital neck's gibbosity. The recent paleopathological researches have diagnosed his congenital cervical gibbosity as effect of the Klippel-Feil's syndrome, and characteristic lesions of tubercolosis.

Maurice Klippel.

Maurice Klippel (1858-1942) was a turn-of-the-century French internist with a special interest in neurology and psychiatry. He authored numerous medical papers in these disciplines, but is best known to spine surgeons for his description, co-authored with Andre Feil, of a patient with congenital fusion of the cervical vertebrae, a condition now known as Klippel-Feil syndrome.