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Artefacts & Environmental Evidence: The Human Bone

Malin Holst HND BA MSc

3.2 Congenital Disease

Environmental and genetic factors can predispose individuals to congenital anomalies (Turkel 1989) which can affect both the soft tissue and the skeleton. The severity of these abnormalities can range from minor variations, such as additional joint facets, to major conditions, such as dwarfism. Some of these defects would have had a much more severe effect on an individual's life in the past than they would today. Cleft palate, for example, would often have been fatal for the affected infant due to the difficulties it causes in breastfeeding (Anderson 1994). While congenital defects are frequently observed in archaeological skeletons, individual congenital conditions tend to appear in low frequencies ibid, 114).

Individuals who suffered from the more severe congenital defects had to endure the pain or discomfort resulting from these conditions as well as the stigma associated with them. Medieval society believed congenital conditions to be proof of indecency, God's wrath or the work of demons or devils (Anderson 2000, 217). A manuscript from 1568 illustrated the fate of a child born out of wedlock, which suffered from a cleft lip, spina bifida aperta and several other deformities. The 'monstrous' child, who died shortly after birth, was thought to have been the result of the mother's ungodly lifestyle, and as such, was used as a warning against sinful living (Anderson 1994). This illustrates the effect congenital anomalies would have had, not just upon the physical well-being of the individual, but also upon the quality of life within medieval society.

Most congenital anomalies, including the majority of axial anomalies, develop as a result of abnormalities or disruptions during foetal development. Axial defects are commonly observed in archaeological skeletons, and are a result of developmental disturbances in the first trimester of pregnancy, when the axial skeleton forms. Skeletal manifestations of defects resulting from irregular segmentation or shifting of axial borders, include bifurcation of ribs, additional rib facets, supernumerary ribs, transitional vertebrae (which take on morphological characteristics of adjacent vertebrae), supernumerary vertebrae, vertebral fusion, and bifid spinous processes. All of these anomalies were observed in a number of skeletons from Fishergate House (Table 20).

Table 20: Summary of the most prevalent or unusual congenital anomalies
Condition No. of individuals % of total Sex Age group Bone affected
Sex No. Age No. Bone No.
Spina bifida occulta 22 9 u 1 13-17 1 4th-5th sacral 16
f 11 18-25 4 3rd-5th sacral 2
m 10 26-35 1 1st-5th sacral 2
26-35 9 4th sacral 2
46+ 9
Bifid spinous process of first sacral vertebra 8 3.2 f 4 18-25 3 1st sacral 8
u 1 26-35 1
m 3 26-35 1
46+ 3
Supernumerary rib 8 3.2 f 3 18-25 2 cervical rib 2
m 5 26-35 1 13th rib 3
26-35 1
46+ 5
Sacroiliac fusion 4 1.6 u 1 13-17 1 right ilium 3
f 1 26-35 1 left ilium 1
m 2 46+ 2
Supernumerary vertebra 4 1.6 m 3 46+ 3 6th lumbar 1
f 1 26-35 1 13th thoracic 1
6th lumbar 2
Fusion of bone elements 4 1.6 f 3 26-35 2 5th lumbar-1st sarcral 1
m 2 26-35 1 sternum/ manubrian 4
18-25 1
46+ 1
Lumbarisation 3 1.2 m 3 46+ 3 1st sacral 2
13th thoracic 1
Sacralistaion 3 1.2 f 2 26-35 3 5th lumbar 1
m 1 6th lumbar 2
Ectodermal cyst 3 1.2 f 2 26-35 2 left tibia shaft 2
m 1 18-25 1 right acetabulum 1
Transitional vertebra 3 1.2 u 1 13-17 1 7th cervical 2
f 1 18-25 1 12th thoracic 1
m 1 26-35 1
Bifid vertebral process 2 0.8 u 2 13-17 1 7th cervical transverse process; 1
newborn to 1 yr 1 5th lumbar bipartite pedicle 1
Enlarged auditory meatus 2 0.8 u 2 1-12 2 right meatus 1
Bifurcated ribs 2 0.8 f 1 26-35 2 7th right rib 1
m 1 5th right rib 1
Additional articular facet 2 0.8 u 1 13-17 1 right 2nd rib 1
f 1 18-25 left tarsal 1
Coxa vara 3 0.8 f 2 18-25 1 both femoral necks 3
1   m   46+ 2    
Thoracic fusion 1 0.4 f 1 26-35 1 5th-6th thoracic 1
Bifid mandibular condyles 1 0.4 u 1 26-35 1 both condyles 1
Hydrocephalus 1 0.4 u 1 1-12 1 cranium 1
Congenital hip dysplasia 1 0.4 u 1 1-12 1 both acetabuli 1
Absent hook of hamate 1 0.4 f 1 26-35 1 right hook 1
Scaphoid crease 1 0.4 m 1 46+ 1 both scaphoids 1
Vertebral fusion 1 0.4 f 1 26-35 1 5th-6th thoracic 1

3.2.1 Spina bifida occulta

The most commonly occurring congenital defect was spina bifida occulta, which is characterised by non-fusion of the vertebral neural arches of the sacrum. This condition does not cause significant difficulties in life, in stark contrast to the more severe spinal bifida apertaor cystica, which can cause severe pain and can be fatal. Nine percent of individuals from Fishergate House were found to have spina bifida occulta, and in most cases, only the lower part of the sacrum was affected, with only two cases in which all five sacral arches were unfused (Plate 1, right). The condition affected males and females equally (Table 20).

The prevalence of spina bifidafrom Fishergate House (9%) was similar to that from the medieval monastic cemetery at Hull Magistrates Court (Holst et al forthcoming), where 10% of individuals excavated were found to have this condition. At Blackfriars, the prevalence was only 7%, while it was even lower at St Andrews, where 4% of individuals were affected. However, at Towton, the prevalence was considerably higher than at Fishergate House, with 24%. A prevalence of 5 to 25% spina bifida occulta in a population is considered normal.

3.2.2 Minor congenital anomalies

A number of non-axial congenital anomalies were observed, including three ectodermal inclusion cysts, which form as a result of entrapped cells during foetal development (Barnes 1994). These were noted on two tibial shafts and on a right hip socket (acetabulum). A further abnormality observed on the femora of a male (C1393) and a female skeleton (C1115) was coxa vara, which is characterised by shortened femoral necks and a decrease in the femoral neck to shaft angle. Its cause is still debated, but it may be secondary to rickets, hypothyroidism and osteomalacia (Aufderheide and Rodríguez-Martín 1998, 74). Neither of the two individuals with coxa vara suffered from any secondary complications such as osteoarthritis, and no evidence for the cause of this condition could be identified.

One case of bilateral bifid mandibular condyles (jaw joints) was observed in an old middle adult of undetermined sex. Bifurcated condyles are usually unilateral, and cases such as this are relatively rare (Barnes 1994, 166). It is thought that this defect can cause joint dysfunctions, but it is normally asymptomatic ibid, and did not exhibit degenerative joint disease in this case.

A small number of congenital anomalies appear after birth, particularly those involving abnormal fusion of skeletal elements. Four cases (1.6%) of abnormal sternal fusion were observed in this population, all of which affected adult males, who had probably lived with this asymptomatic anomaly since early adulthood.

No parallels could be found for one of the abnormalities, which is currently thought to have been congenital and was identified in the right ears of two juveniles (C1033 and C1410). The outer parts of the ear (auditory meatus), were greatly enlarged compared with those of the left ears. It has not been possible to identify the cause of this defect, or its effect on the individuals who had this condition.

3.2.3 Sacroiliac fusion

The prevalence of a congenital condition involving the hip was particularly high in this population: four individuals (1.6%) suffered from fusion of the sacrum and pelvis, including two males, one female and an adolescent (Table 20). In three of the cases, the right ilium had fused to the right part of the sacrum, while in the fourth case, the left side was affected. This anomaly is normally attributed to degenerative joint disease (Waldron and Rogers, 1990); however, the lack of skeletal evidence for such disease suggests that at least three of the cases were congenital. The fourth case (C1312) may have been congenital; however, this old middle adult female suffered from a number of enthesopathies and erosive lesions on the 5th metatarsal, suggesting possible seronegative spondyloarthropathy (discussed below). Corresponding cases of congenital fusion of the sacroiliac joints were observed in a male and female from Hull Magistrates Court (Holst et al forthcoming) and in a male soldier from Towton (Coughlan and Holst 2000, 62). All of these cases were unilateral and would have caused these individuals to walk with a limp.

3.2.4 Hydrocephalus

Some of the congenital anomalies observed were more severe: one probable case of hydrocephalus ('water on the brain') was noted in a one to two year old juvenile (C1480). Very few archaeological examples of hydrocephalus have been recovered to date (Murphy 1996, 435), and only four in the British Isles (Roberts and Manchester 1995, 42; Anderson, 2000). A Roman case of hydrocephalus has been reported from Norton (Yorkshire) (Brothwell 1967), and Anglo-Saxon cases have been found at Eccles (Kent) (Manchester 1980) and Nazeingbury (Essex) (Huggins 1978). Only one medieval case has been reported thus far, from Doohbought Fort in Northern Ireland (Murphy 1996). Two of these cases were children, while the other two were male adults, who had survived this condition (Anderson 2000, 200).

Effects of hydrocephalus on an infant include a rapidly increasing head size, blindness, deafness, paralysis, headaches, mental disabilities, spasticity and joint contracture. The scarcity of skeletons with hydrocephalus might be due to the high mortality associated with this condition, with 50% of infants dying by the age of eighteen months (Murphy 1996, 435); the crania of such young infants are not fused at this age and it is therefore difficult to identify the diagnostic enlarged head, which results from the accumulation of cerebrospinal fluid in the skull. Hydrocephalus can be congenital, or may be acquired as a result of trauma, infection or tumours ibid, 440). However, when the condition is congenital, the enlarged skull is present prior to birth and causes obstruction, resulting in the death of both mother and child. Measles and mumps have been identified as modern causes of hydrocephalus, but mortality from these diseases in antiquity would have occurred before the enlarged skull had developed (Roberts and Manchester 1995, 42). A further possible cause for hydrocephalus in this case may have been toxoplasmosis infection.

The skull of skeleton C1480 appeared unusually large upon cleaning of the skeleton in situ. During skeletal analysis, it was found that the cranial bones were very thin, and there appeared to be widely separated sutures as well as an accentuated curvature, which is characteristic of hydrocephalus (Aufderheide and Rodríguez-Martín 1998, 57). Evidence for active inflammation (periosteal inflammatory bone formation) was located on the inner (endocranial) and outer (ectocranial) surfaces of the parietals and occipital of this individual and may support the diagnosis (Plate 2, right), although these expressions of hydrocephalus are not discussed in the literature. A recently reported Palaeolithic case of hydrocephalus (Tillier et al 2001) showed additional hypotrophy as well as and shortened upper limb bones and endocranial asymmetry. As a result of the lack of most of the post-cranial skeleton in this case and the fragmentary nature of the cranium, it was not possible to measure the shape and size of the bones and cranium in order to support the diagnosis of hydrocephalus.

3.2.5 Congenital hip dysplasia

A further dramatic congenital defect was the congenital dislocation of the hip of a six to seven year old juvenile (C1246). Congenital hip dysplasia (CHD) is characterised by an abnormal relationship between the femur and pelvis at the hip joint. This is the most commonly reported congenital condition in the palaeopathological literature (Anderson 2000, 200). A mature adult female from Hull Magistrates Court was also found to suffer from bilateral hip dysplasia, and a further case was reported from Jewbury (Brothwell and Browne 1994).

While CHD is now treatable, in antiquity the condition was often not recognised until the child began to walk, when it was too late for treatment (Roberts and Manchester 1995, 38). As a result, the hip joint becomes displaced, which is exacerbated subsequently by muscle action - this causes an abnormal gait, as well as constant pain ibid. The condition creates false hip joints, flat and oval femoral heads and shortened femoral necks (Aufderheide and Rodríguez-Martín 1998, 69). The normal hip joints of this juvenile were underdeveloped, with the creation of additional articular surfaces on the postero-lateral parts of both iliae. CHD tends to be more common in females than in males, and occurs most frequently on the left side (Anderson 2000, 213).

3.2.6 Conclusion

Many of the individuals with congenital anomalies tended to have more than one defect. Skeleton C1393, a young adult male, had the greatest number of skeletal congenital anomalies, including supernumerary ribs, coxa vara, a crease in the articular surfaces of the scaphoids (wrist bones), as well as unusually small teeth. An old middle adult female (C1312) showed six congenital anomalies, including sacro-iliac fusion, an absent hook of hamate (part of a carpal) and cervical ribs.

It is commonly found that each population has its own unique congenital character, with a high prevalence of certain congenital anomalies. These population signatures have developed as a result of local families interbreeding, who then appear to have been buried in a particular cemetery. This makes it possible to observe the skeletal manifestations of such anomalies. Interestingly, supernumerary ribs were more common at Fishergate House (3.2%) compared with other medieval cemeteries, such as Hull Magistrate's Court (0.5%) or St Andrew's (0.2%). The large discrepancy between the prevalence rates of congenital anomalies at Fishergate House and the adjacent cemetery of St Andrew's, especially that for spina bifida, implies that the cemeteries have very disparate congenital population signatures, although admittedly the demography of a monastic cemetery is derived from a less family-based population.

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