Klippel-Feil syndrome cases from Slovakia

Hukeľová, Zuzana; Krošláková, Mária

doi:10.1016/j.ijpp.2021.04.011

Cited by 4 publications

(3 citation statements)

References 34 publications

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“…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).…”

Section: Evidencia Registrada En La Columna Vertebralunclassified

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

et al. 2023

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En este trabajo se presenta una síntesis y discusión sobre la presencia de patologías congénitas y defectos del desarrollo en individuos de diferentes periodos arqueológicos de la costa de la región de Antofagasta, en el norte de Chile, las que se concentran en el esqueleto axial. A pesar de que la muestra analizada presenta un número bajo (n = 6), se realiza una comparación con casos reportados para la zona costera de Arica y Tarapacá, obteniéndose que la diferencia entre ambas zonas no es estadísticamente significativa. Considerando antecedentes ambientales y etnohistóricos de la zona, se propone que una combinación a la exposición de diferentes contaminantes naturales, junto a un sistema de parentesco endogámico, serían las causas más probables de la aparición de estas patologías.

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Section: Evidencia Registrada En La Columna Vertebralunclassified

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

et al. 2023

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“… 1 First described in 1912, its classical triad includes a short neck, low hairline, and limited lateral bending of the neck. 2 , 3 These features however collectively appear in less than half of all cases. 4 Here, we report an infant with the complete classic triad of features.…”

Section: Introductionmentioning

confidence: 96%

Klippel-Feil Syndrome Associated with Renal and Cardiac Anomalies in an Infant: A Case Report

Yadav,

Bhattarai,

Bhandari

et al. 2023

J Nepal Med Assoc

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Klippel-Feil syndrome is a rare congenital bone disorder characterised by a triad of short neck, low posterior hairline and limited lateral bending of the neck with an annual incidence of 1 in 40,000 live births. It has remained an obscure term in the medical literature because of its variability in presentation and wide spectrum of anomalies involving multiple organ systems. It is unusual to find a case that has all three classical triad features. Here, we present a case of a 9-month-old infant who manifests not only all three classical triad features associated with Klippel-Feil syndrome but also demonstrates the presence of congenital heart disease, scoliosis, and renal ectopia. An early comprehensive evaluation of a suspected case is essential for diagnosis and counselling which impacts its prognosis, helps minimize social stigma and affords parents the opportunity to consider cosmetic surgery as an option, should they choose to pursue it.

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“…Several cases of KFS have been recorded in the paleopathological literature. Archaeological cases globally have been described since the Neolithic in Slovakia (site of Vráble-Veľké Lehemby) and Late-Final Neolithic in Greece (Alepotrypa Cave, Peloponnese, 5000-2300 BC) (Papathanasiou 2005;Hukeľová et al 2021), the Chalcolithic Age in Peru (MacCurdy 1923), North America (Jarcho 1965), Central America (Urunuela and Alvarez 1994), Ancient Egypt (Aufderheide and Rodriguez-Martin 1998) or Europe (Barnes 1994;Gladykowska-Rzeczycka 1997;González-Reimers et al 2001;Herrerín, 2004;2011;Pany and Teschler-Nicola 2007;Fernandes and Costa 2007;Giuffra et al 2009;Macías-López 2020). In Italy, four cases of KFS from the 1582-1583 AD plague phase of the San Michele cemetery in Alghero (Sardinia) were identified among 199 individuals making this the archaeological site with more such finds also dating to the same historical period .…”

Section: Introductionmentioning

confidence: 99%

Klippel-Feil Syndrome: morphological findings in a 19th-century musealized skull from Viana del Bollo (Orense, Spain)

López

Dorado

Galassi

et al. 2022

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The aim of this study is to show the cranial alterations that Klippel-Feil syndrome produced in a case older than 200 years. Few paleopathological case studies diagnosed as Klippel-Feil Syndrome are focused on cranial abnormalities. A skull numbered 778, belonging to the Federico Olóriz Aguilera collection (Spain, 19th century AD), Universidad Complutense de Madrid, belonging to a young man born in a town in the North of Spain, was investigated. This cranium was visually inspected, hence macroscopically and paleoradiologically studied, using the images obtained through conventional radiology and CT scan imaging. In addition to the vertebral fusion between the atlas (C1) and the axis (C2), atlanto-occipital fusion, basilar impression, obliteration of the sagittal suture, enlarged parietal foramina and significant craniofacial asymmetry affecting maxillary bones, sphenoid, orbits, nasal bones and both palatines were observed. Morphological findings make it possible to diagnose a Klippel-Feil syndrome, possibly type-II, although the lack of the rest of the spinal column renders it impossible to verify other spinal anomalies. As a limitation, only the cranium and two cervical vertebrae were preserved, hence the possible involvement of the rest of the skeleton cannot be verified.

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Klippel-Feil syndrome cases from Slovakia

Cited by 4 publications

References 34 publications

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

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

Klippel-Feil Syndrome Associated with Renal and Cardiac Anomalies in an Infant: A Case Report

Klippel-Feil Syndrome: morphological findings in a 19th-century musealized skull from Viana del Bollo (Orense, Spain)

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