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7/28/2019 Penyakit Kongenital

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Penyakit Kongenital

Many congenital diseases are incompatible with a normal life span, and may have led to

early death in prehistoric situations. With the onset of modern medicine, however, some of the

condtions are tretable or manageable, and the patients may survive for longer. A case such as

that illustrated in figure 1 would have been obviously very recognizable in life. This individual,

from a modern skeletal collection, suffered from an in utero defect in the migration and closure

of the first and second branchial arches which led to incomplete formation of the nose area and

hypertelorism (eye wide apart). Cases like this are extremely rare, more so in countries where

modern medica facilities are available.

Some of the more common conditions include spina bifida, hydrocephalus,

craniostenosis, and cleft palate. Spina bifida is a nonclosure of the spinal canal, where the two

halves of the neural arches of the vertebrae have not fused. This ooccur most commonly in the

lumbodacral area. It may be asymptomatic if small, and is then called spina bifida occulta (

figure 2). People with spina bifida may have abnormalities of the overlying skin, and sometimes

also excessive growth if hair in the area. In severe cases the spinal cord is affected, resulting in

neurological disorders such as paraplegia and incontinency.

Hydrocephalus involves an obstruction of the flow of cerebrospinal fluid, resulting in

fluid accumulation in the lateral ventricles. Since this condition usually prevails since birth, the

patiens may have a very large and misshapen brain case, and in the case of young individuals the

fontanelles close much later than expected, as was the case of the individuals illustrated in figure

3. This child, although abouth three years old, as judged by dentition, still had a wide open

anterior fontanelle. Hydrocephalus may also be associated with other diseases of the neurological

system, such as meningitis, abscesses and tumors.

In the case of craniostenosis, some of the cranial sutures lose prematurely, resulting in

abnormal head shapes. Premature closure of the sagittal suture, for example, will lead to an

elongated head with a prominent forehead ( scaphocephaly), whereas fusion of the coronal suture

produces a short skull with a very high forehead. Conditions like these would have been very

noticeable during life.


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Cleft palate may occur alone or in combination with a cleft lip. A Cleft palate is due to

incomplete formation of the hard palate, whereas cleft lip also involves the maxilla. It may be

complete or incomplete,unilateral or bilateral. In modern remains it can be expected that an

attempt at some sort of reconstructive surgery would have been made.

Penyakit Infeksi

A number of infectious diseases may leave signs on bones, most of which would have

been of a chronic nature. It is not possible, from bones alone, to diagnose acute diseases such as

gastroenteritis or pneumonia. Advanced chronic infectious disease such as leprosy and syphilis

with bone involvement are seldom seen in affluent societies, although they may be more

common in less-developed countries. Osteomyelitis, on the other hand, is primarily a bone

disease, and sometimes becomes chronic even after treatment with antibiotics, and may therefore

be seen in all societies. Acquired immunodeficiensy syndrome (AIDS), although of chronic

nature, does not affect boneper se,but is often associated with other infectious diseases such as

tuberculosis, syphilis, and fungal infectious of the lungs. In countries where tuberculosis is

common, AIDS sufferrers often die of tuberculosis even without the AIDS being diagnosed.

Periosttis of bone occurs as a reaction to pathological changes on the underlying bone. It

results in new bone formation by the inner layer of the periosteum. And layers of new bone are

laid down on the surface of the underlying bone. These bone deposits may be irregular and of

varying thickness, often with a woven appearance ( figure 4). It may be due to infection, as in the

case of osteomyelitis, or result from trauma or even in the recovery phase of deficiency

syndromes (e.g.vitamin C deficiency). Periostitis is usually nonspecific, and occurs in many

diseases. It may however, sometimes lead to a definitive diagnosis. In these case the distribution

of the lesions may give valuble clues, as in the case of syphilis where the lesions are commonly

found on bone surfaces close to the skin (e.g.anterior surface of the tibia).

The term osteomyelitis generally describes infection of the bone, caused by any of a

number of microorganisms. Most of these infections (80-905), however, are caused by

staphylococcus aureus). Microorganisms may reach the bone (1) through the bloodstream, (2) by

the extension of an adjacent infection, or (3) directly via trauma or surgery. The last two are the


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most common I developed countries, where the jaws and skull are often involved due to dentl

infections or sinusitis. It is also common in bones of the feet and hands in diabetic patients.

Hematogenous osteomyelitis is more common in developing countries, where long bones of

children and vertebrae of adults are often involved. The disease usually starts as an acute

infection, but may become chronic in about 20% of the case.

Hematogeneous osteomyelitis usually starts from the bone marrow, and the penetrates the

endosteum. The bone cortex then becomes infected, and the infection spread to periosteum,

where it may form a subperiosteal abscess. Penetration of the periosteum may cause sinus tracts

(cloacae) through the cortical bone. Small or larger portions of the bone may undergo necrosis,

causing a sequestrum ( fragment of dead bone). The onfection may also spread to adjacent joints,

causing septi arthritis. In some cases the infection may become localized and form a chronic area

of infection, which is then called a Brodies Abscess. The cronic infection may also stimulate

osteoblastic activity, which results in new bone formation under the periosteum (involucrum).

Bones of individuals suffering from osteomyelitis thus show bone destruction,

subperiosteal new bone formation, bone deformation, sequestration, and cloacae formation. It

may also lead to excessive growth of the affected bone. Osteomyelitis, is often destructive, and

may lead to ankylosis of the bones of the joint.

Tuberculous osteomyelitis is not commonly seen in developed countries, but may occur

in compromised patients (e.g.with diabetes or AIDS). In developing countries it usually occurs in

young adults and adolescents. It may be slower in onset than is the case in pyogenic

osteomyelitis, but is usually much more destructive and difficult to control. It is most common in

the spine and long bones where it causes extensive necrosis often resulting in sinuses that drain

to the skin. When it occurs in the spine it is called Potts disease, and here it often leads to

compression fractures which in turn give rise to serious deformities such as kyphosis and

scoliosis. Next to spinal involvement, the hand and foot bones are commonly affected, followedby ribs, tibia and fibula. Any joint can be diseased, and this is usually associated with infection

of the adjacent bones. The Knee, hip and elbow joints are most often involved. Skeletal lesions

develop in less than 7% of individulas with tuberculosis.


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Degenerative

Degenerative disease may also be helpful in determining the indetity of an individual. It

usually occurs in older individuals. Radiographs of the diseased joint often exist, and in some

cases surgical procedures, such as implantation of prostheses, may have been done. In a case

from South Africa, for example, the body of an elderly individual with severe arthritis of the hip

was discovered near a small town. Positive identification was easy when records of a missing

person were found who was already booked in for a hip replacement.

Although there are mny causes of arthritic disease, only a few can be diagnosed with the

help of dry bone only. These are osteoarthritis, vertebral osteophytosis, traumatica arthritis,

rheumatoid arthritis, ankylosing spondylitis, infectious arthritis and gout. Of these diseases, only

osteoarthritis and vertebral osteophytosis are truly degenerative in nature.

Bone change due to old age are very common, and can be seen in most people over the

age of 50.Osteoarthritis is usually characterized by deterioration of the joint cartilage and

formation of new bone near the joint surfaces. The subchondral bone shows irregular pits, and

lipping or osteophytes form near the margins of the joint. If the overlying cartilage completely

disappears, the bone is exposed. The bone may then become sclerotic with a polished (eburnated)

appearance (figure 14). Weight-bearing joints, such as the hip and knee, are most commonly

affected, whereas distal interphalangeal joints are also frequently affected. Although more than

one joint is usually affected, the disease is not as generalized as is the case with rheumatoid

arthritis.

rheumatoid arthritis is an autoimmune disease. It affects many joints, including proximal

interphalangeal, metacarpophalangeal, tarsal and temporomandibular joints. It occurs in younger

individuals, and females are more often affected than males. Osteoporosis of adjacent bones,

subluxation and ankylosis may be found.

Degenerative disease of the vertebrae may involve the apophysial (facets of the

vertebrae) or intervertebral joints and is characterized by osteophytes. This condition is so


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common that it is unlikely to help in a positive identification. Its presence may, however,

confirm that the remains are of an elderly individual.

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