Endogenous causes include >5,000 presently known genetic conditions and many chromosomal anomalies (aneuploidies) and sporadic conditions with no clear-cut genetic involvement. The cause of a congenital condition can be endogenous (i.e., fetal), exogenous (i.e., maternal) or a combination of both, although in many cases no exact cause can be established. CONGENITAL CONDITIONS: CAUSES, DISTRIBUTIONS, AND ARCHAELOGICAL REPRESENTATION This review surveys what these two disciplines can offer to physical and forensic anthropologists in assessing skeletonized human remains presenting with congenital anomalies. Dysmorphology is a medical, mostly pediatric, discipline that focuses on the clinical diagnosis and symptomatology of physically apparent patterns of congenital anomalies, whereas teratology, a biological discipline, deals with the epidemiology and pathogenesis of congenital conditions. Although they deviate from the default building plan of the human body, these variations are not significantly disadvantageous to the affected subject.Ĭongenital conditions in humans are studied by two overlapping disciplines: dysmorphology and teratology. However, there is a transitional region rather than a sharp boundary between normal morphology and congenital anomalies, which encompasses the so-called anatomical variations. The collectively recorded prevalence of all congenital conditions is around 2.4% of live births (Dolk et al., 2010). Conditions with an insidious onset can show their first symptoms in childhood, adolescence, or even adulthood. This does not necessarily imply that the conditions themselves are always apparent before or at birth.
Physical conditions are considered “congenital” if they result from a prenatally present cause.
Initially considered to result from divine intervention or maternal imagination, their true nature has been progressively unraveled since the late 17th century. on behalf of American Association of Clinical AnatomistsĬongenital anomalies have intrigued mankind since the earliest times. © 2016 The Authors Clinical Anatomy published by Wiley Periodicals, Inc.
#Malcolm wallace skull and bones registration#
In individual cases, specific congenital conditions could be determinative in establishing identity, provided that ante-mortem registration of those conditions was ensured. 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. Conditions pertaining to the cranial sutures, i.e., craniosynostoses, can be either skeletal dysplasias or dysostoses. Dysostoses can concern the extremities (e.g., oligodactyly and polydactyly), the vertebral column (e.g., homeotic and meristic anomalies), or the craniofacial region. missing or extraskeletal elements, but the histology of the skeletal tissues is unaffected. Dysostoses, in contrast, interfere with the building plan of the body, leading to e.g. Well- known skeletal dysplasias represented in the archeological record include osteogenesis imperfecta and achondroplasia. 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. Here, we discuss two groups of congenital conditions that specifically affect the skeleton, either qualitatively or quantitatively. Congenital conditions are rarely encountered in anthropological studies, not least because many of them have no obvious effect on the skeleton. Most congenital conditions have low prevalence, but collectively they occur in a few percent of all live births.
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