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

Fernandes, Teresa; Costa, Catarina

doi:10.1111/j.1469-7580.2007.00809.x

Cited by 26 publications

(22 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Patients with KFS usually have a short neck, limited neck movement, cleft palate, scoliosis, pre-auricular appendages and upper eyelid coloboma 124 125. Several otological abnormalities have also been described in KFS, including external ear malformation, ossicular chain abnormalities and structural abnormalities of the inner ear.…”

Section: Microtia-associated Syndromes With Other Molecular Mechanismsmentioning

confidence: 99%

Genetics of microtia and associated syndromes

Alasti

Camp

2009

Journal of Medical Genetics

135

113

View full text Add to dashboard Cite

SummaryMicrotia is a congenital anomaly, characterized by a small, abnormally shaped auricle (pinna). It is usually accompanied by a narrow, blocked or absent ear canal. Microtia can occur as the only clinical abnormality or as part of a syndrome. The estimated prevalence of microtia is 0.8-4.2/10,000 births and it is more common in males. Microtia can have a genetic or environmental predisposition. Mendelian hereditary forms of microtia with an autosomal dominant or recessive mode of inheritance as well as forms due to chromosomal aberrations have been reported. Several responsible genes have been identified, most of them being homeobox genes. Mouse models have been very useful to study these genes, providing valuable information on the development of the auditory system. In this article, we review the epidemiological characteristics of microtia, and the environmental causes involved. In addition, we discuss the development of the auditory system, specifically on relevant aspects of external and middle ear development. The focus of this review is to discuss the genetic aspects of microtia and associated syndromes. The clinical aspects of different disorders involving microtia are also discussed in relation to the genes that are causing them.

show abstract

Section: Microtia-associated Syndromes With Other Molecular Mechanismsmentioning

confidence: 99%

Genetics of microtia and associated syndromes

Alasti

Camp

2009

Journal of Medical Genetics

135

113

View full text Add to dashboard Cite

show abstract

“…Klippel-Feil diagnoses have been made for a skeleton at a Neolithic sites in Vietnam (Oxenham et al, 2009), Japan (Fukashima, 1988) and Greece (Papathanasiou, 2005). Numerous medieval and post-medieval sites have documented this condition, including a site in Portugal (Fernandes and Costa, 2007), and two cases from St. Mary Spital, England (Walker, 2012:14-15). Other cases of the syndrome in the old world include the following: a Magyar period individual from Austria (Pany and Teschler-Nocola, 2007), a Middle Bronze Age individual from Syria (Ricaut, 2008), multiple individuals from El Hierro in the Canary Islands (Gonzalez-Reimers et al, 2001), and it is believed that Tutankhamun suffered from this syndrome (Boyer et al, 2003;Rosti, 2013).…”

Section: Klippel-feil Syndromementioning

confidence: 99%

Sacrifice of the Social Outcasts: Two Cases of Klippel–Feil Syndrome at Midnight Terror Cave, Belize

Kieffer

2015

Intl J of Osteoarchaeology

View full text Add to dashboard Cite

The archaeological record indicates that the ancient lowland Maya sacrificed a wide variety of people in caves for various reasons. Ritual theorists have proposed that individuals chosen for sacrifice cross‐culturally are typically outsiders either geographically or socially with slaves, prisoners of war, children (typically orphaned), sorcerers and the physically handicapped. Prior to this study, all but the physically handicapped were documented as sacrificial victims at cave sites. The site of Midnight Terror Cave in the Cayo District of Belize contains at least 118 individuals and is now one of the largest sacrificial assemblages ever discovered in the Maya Lowlands. This assemblage supports previous notions of who the ancient Maya chose for human sacrifice and documents the first cases of physically handicapped sacrifices. Two individuals with probable Klippel–Feil syndrome, a physically debilitating pathological condition with many associated abnormalities that would have made certain aspects of social life difficult, were documented in the assemblage. Ultimately, these results suggest that ritual theory predicts all the types of social outcasts chosen for sacrifice Maya caves. Copyright © 2015 John Wiley & Sons, Ltd.

show abstract

“…KFS in its milder Type I and II forms has been documented in a number of archaeological sites globally from as early as 5000 BC through to medieval times: Japan (Fukushima, 1988); Portugal (Fernandes and Costa, 2007;Silva and Ferreira, 2008); Hungary (Pany and Teschler-Nicola, 2007); Greece (Papathanasiou, 2005); Central and South America (Urunuela and Alvarez, 1994); North America (see Barnes, 1994 for an extensive review). Apart from Man Bac burial 9 the only other extreme form of KFS known to the authors is that of a pre-Hispanic (~1450-1500 AD) female aged 30-40 years from Cholula, Puebla, Mexico with vertebral fusion from C2 to T1 but not appearing to suffer from any form of paralysis (Urunuela and Alvarez, 1994).…”

Section: Differential Diagnosismentioning

confidence: 99%

Paralysis and severe disability requiring intensive care in Neolithic Asia

Oxenham

Tilley

Matsumura

et al. 2009

View full text Add to dashboard Cite

This communication documents one of the earliest verifiable cases of human paralysis associated with severe spinal pathology. A series of skeletal abnormalities is described for a young adult male (M9) from a Southeast Asian Neolithic community. Differential diagnosis suggests that M9 suffered from a severely disabling congenital fusion of the spine (Klippel-Feil Syndrome, Type III), resulting in child-onset lower body paralysis at a minimum (maximally quadriplegia). M9 experienced severe, most probably total, incapacitation for at least a decade prior to death. In the prehistoric context, this individual's condition would have rendered him completely dependent on others for survival.

show abstract

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

Cited by 26 publications

References 11 publications

Genetics of microtia and associated syndromes

Genetics of microtia and associated syndromes

Sacrifice of the Social Outcasts: Two Cases of Klippel–Feil Syndrome at Midnight Terror Cave, Belize

Paralysis and severe disability requiring intensive care in Neolithic Asia

Contact Info

Product

Resources

About