Ancient Down syndrome: An osteological case from Saint-Jean-des-Vignes, northeastern France, from the 5–6th century AD

Rivollat, Maïté; Castex, Dominique; Hauret, L.; Tillier, Anne-Marie

doi:10.1016/j.ijpp.2014.05.004

Cited by 20 publications

(12 citation statements)

References 22 publications

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“…This method is therefore suitable for light shotgun sequencing data even of samples that contain only a small percentage of endogenous DNA or that are contaminated by modern human DNA. We also see an application of an adapted version of this approach to detect major chromosomal anomalies such as trisomy 21, conditions that were undoubtedly present in pre-historic populations but that can only tentatively be diagnosed in skeletal remains through anthropological methods [ 22 ].…”

Section: Discussionmentioning

confidence: 99%

A Molecular Approach to the Sexing of the Triple Burial at the Upper Paleolithic Site of Dolní Věstonice

et al. 2016

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In the past decades ancient DNA research has brought numerous insights to archaeological research where traditional approaches were limited. The determination of sex in human skeletal remains is often challenging for physical anthropologists when dealing with incomplete, juvenile or pathological specimens. Molecular approaches allow sexing on the basis of sex-specific markers or by calculating the ratio of DNA derived from different chromosomes. Here we propose a novel approach that relies on the ratio of X chromosome-derived shotgun sequencing data to the autosomal coverage, thus establishing the probability of an XX or XY karyotype. Applying this approach to the individuals of the Upper Paleolithic triple burial of Dolní Věstonice reveals that all three skeletons, including the individual DV 15, whose sex has long been debated due to a pathological condition, were male.

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Section: Discussionmentioning

confidence: 99%

A Molecular Approach to the Sexing of the Triple Burial at the Upper Paleolithic Site of Dolní Věstonice

et al. 2016

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“…The MS preservations, a delayed closure of the anterior fontanelle and wormian bone formation have been found to be common in patients with Down's syndrome [99]. Underdeveloped FS is also typical of the DS [43].…”

Section: Metopic Suture Persistence and Frontal Sinus Developmentmentioning

confidence: 99%

Relation between Metopic Suture Persistence and Frontal Sinus Development

Nikolova¹,

Toneva²,

Georgiev³

et al. 2019

Challenging Issues on Paranasal Sinuses

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The frontal bone develops as two halves, which further unite in a single bone by the closure of the mid-sagittal metopic suture, typically by the end of the first postnatal year. The frontal sinus begins to expand into the orbital and vertical plates of the frontal bone postnatally and reaches the level of the nasion by the fourth year of age. At this time, the metopic suture is usually entirely closed. However, in the cases of failed closure of the metopic suture, its relationship to the frontal sinus development is still obscure. Here, we review the relevant literature and discuss the frontal bone development and maturation, from the viewpoint of the frontal sinus pneumatization in relation to the metopic craniosynostosis and failed closure of the metopic suture. The peculiar to the metopic skulls frontal bone configuration is rather an expression of the underlying neural mass demands than a consequence of the metopic suture persistence. Furthermore, the persistent metopic suture is frequently associated with a frontal sinus underdevelopment. It seems that the metopic suture does not inhibit the frontal sinus pneumatization itself, but rather both traits are an expression or an aftereffect of a certain condition during the early development.

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“…Several excellent papers have been published on the archeological presentation of certain congenital conditions, including neural tube closure defects (Kumar and Tubbs, ), Down syndrome (Rivollat et al, ) and orofacial clefts (Tur et al, ). Leaving aside conditions with a predominantly extraskeletal focus, the remainder of this review will focus on the morphological characteristics of congenital conditions that directly and specifically concern the skeleton, qualitatively and/or quantitatively.…”

Section: Congenital Conditions: Causes Distributions and Archaelogimentioning

confidence: 99%

Paleodysmorphology and paleoteratology: Diagnosing and interpreting congenital conditions of the skeleton in anthropological contexts

2016

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Most congenital conditions have low prevalence, but collectively they occur in a few percent of all live births. Congenital conditions are rarely encountered in anthropological studies, not least because many of them have no obvious effect on the skeleton. Here, we discuss two groups of congenital conditions that specifically affect the skeleton, either qualitatively or quantitatively. Skeletal dysplasias (osteochondrodysplasias) interfere with the histological formation, growth and maturation of skeletal tissues leading to diminished postural length, but the building plan of the body is unaffected. Well-known skeletal dysplasias represented in the archeological record include osteogenesis imperfecta and achondroplasia. Dysostoses, in contrast, interfere with the building plan of the body, leading to e.g. missing or extraskeletal elements, but the histology of the skeletal tissues is unaffected. Dysostoses can concern the extremities (e.g., oligodactyly and polydactyly), the vertebral column (e.g., homeotic and meristic anomalies), or the craniofacial region. Conditions pertaining to the cranial sutures, i.e., craniosynostoses, can be either skeletal dysplasias or dysostoses. Congenital conditions that are not harmful to the individual are known as anatomical variations, several of which have a high and population-specific prevalence that could potentially make them useful for determining ethnic origins. In individual cases, specific congenital conditions could be determinative in establishing identity, provided that ante-mortem registration of those conditions was ensured. Clin.

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Ancient Down syndrome: An osteological case from Saint-Jean-des-Vignes, northeastern France, from the 5–6th century AD

Cited by 20 publications

References 22 publications

A Molecular Approach to the Sexing of the Triple Burial at the Upper Paleolithic Site of Dolní Věstonice

A Molecular Approach to the Sexing of the Triple Burial at the Upper Paleolithic Site of Dolní Věstonice

Relation between Metopic Suture Persistence and Frontal Sinus Development

Paleodysmorphology and paleoteratology: Diagnosing and interpreting congenital conditions of the skeleton in anthropological contexts

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