Again and again, reports the Christian Blind Mission ( CBM) on cataract ( cataract ) – even in children. We are often asked: ” Why exactly do so many children in Africa Horror Star cataract is still a disease of old age ? ” True – the majority of cataracts occurs in old age. The clear lens in the eye becomes cloudy over the course of a natural aging process, ie similar to the wrinkling of the skin or the hair graying . We see as through a veil . This is more dense, until the eye at the end of almost only can distinguish between light and dark over time . One speaks here of acquired cataracts. However, there are also congenital cataracts, when the eye lens ie at birth has a haze . In a number of cases of congenital cataract , no specific cause can be found . What is known is that a viral infection of the mother may develop a cataract in the child during the first three months of pregnancy with rubella , measles or mumps. In this country, the majority of the population is vaccinated against this virus infections. At each vaccination, a vaccination rate of at least 95 percent is intended to prevent the further spread of disease. Quite different is the situation in many developing countries : Some one-third of a vintage is in these countries vaccinated. Therefore, congenital cataracts come in contact with infectious diseases in developing countries frequently. Cataracts can also be inherited or genetic, for example, by chromosomal abnormalities ( trisomy 13 or 15, Down syndrome ) . It is believed that many children are affected in developing countries, due to malnutrition of the disease. Other causes include eye injuries, severe inflammation and metabolic diseases (eg diabetes) . Even after intensive and frequent exposure to radiation , such as X-ray , infrared, or UV radiation , it has been found cataracts.

No matter what the cause is : Cataracts can be treated only by surgery. Medications do not help . The clouded lens is replaced by an artificial lens . The operation takes only about 15 minutes. Unfortunately, most people in developing countries for an operation can not financially pay . Therefore, it is important that we continue to help people with cataracts. Since 1966, over 10 million cataract operations were performed in CBM -supported projects . It’s such a great joy when a man after a simple surgery can see again!

The Republic of the Union of Myanmar has three cardiac surgical departments. The largest one is located at the Yangon General Hospital in the former capital Yangon (Rangoon). Throughout the country, 200 heart operations are performed every year –for nearly 60 million people! The scope of surgical procedures is limited, the variety of disease however is endless, the death rate unknown.  EurAsia Heart Foundation supports the development of the cardiovascular surgical department at the General Hospital in Yangon providing donated materials and cooperating in clinical work.

Cardiovascular Diseases – A Major Problem Worldwide

In developing countries, cardiovascular diseases are the major cause of death in neonates, children, adolescents and adults. Untreated congenital heart disease is the major cause of death worldwide in children younger  than five years of age, exceeding  the combined death rate caused, e.g. by malaria, tuberculosis or HIV.

In many developing countries, life expectancy is limited to an average of 58 to 64 years of age. In addition quality of life is markedly reduced while the number of disabled patients and patients depending from social welfare is steadily increasing.

The major cause is undiagnosed and untreated cardio vascular diseases. Eighty percent of all cardiovascular deaths worldwide occur in developing countries. Cardiology and cardiovascular surgery are powerful tools to increase the life expectancy, to improve and normalize the quality of life, to preserve patients able to work and to reduce the overall health care costs as well as costs for social welfare for those otherwise disabled by chronic cardiovascular diseases. In Western countries, there are around 1000 cardiac operations performed per 1 million people. The mean number of patients operated in developing countries may be as low as 16 to 25 patients per 1 million people. Hence, there are millions of children, adolescents and adults waiting for cardiac surgery suffering from chronic cardiovascular disease. In addition, the majority of neonates with congenital heart disease are going to die early after birth despite the fact that curative surgical treatment would be possible. Developing countries invest in cardiology and cardiovascular surgery. However, the establishment of a cardiovascular centre is a challenging task. The problem is that several specialties have to be developed simultaneously: cardiology, cardiac surgery, perfusion techniques, anesthesia, intensive care as well as postoperative medical treatment – for adults and for children.

Cardiac surgery is prone to have complications, which are even more demanding to treat – and complications will undoubtedly occur during the establishment of a new centre. Moreover, in contrast with many operations in general surgery or other specialties, death and life-long disability are always potential complications in every patient undergoing any type of cardiac surgery . In addition, cardiac surgical patients have become more difficult to treat than in earlier times because the easy-to-treat-patients usually are cared for by percutaneous cardiological interventions.

The current generation of cardiac surgeons in Western European countries already had experienced teachers and grew up with constantly more difficult to treat patients.

Hence, they had the opportunity to grow up in parallel with the steady and continued progress of cardiac surgery experiencing the ever increasing complexity of modern surgical techniques.

By contrast, surgeons in Eastern European and Asian countries are confronted from the beginning with difficult to treat and chronically ill patients, complex technologies and advanced knowledge in the operating theatre as well as in the intensive care station. For these reasons many centres in developing countries have – even in simple cases – high mortality and complication rate s and are only able to treat a limited spectrum of patients being in urgent need f or cardiac surgery. On the other side, patients expect perfect results even from newly established cardiac surgical centres, and so-called “learning curves” are no more accepted.

Governments may build new departments being equipped with expensive and latest state-of-the-art devices. Nevertheless, the most important part of a well functioning cardiovascular surgical department is represented by a well-educated staff including well-trained and highly motivated doctors supported by an experienced nursing team.

Doctors may be sent abroad. However, the majority is not allowed to operate abroad on their own due to tight legal restrictions. In addition, those who have become successful abroad are no more willing to return home – a well-known and dramatic consequence which is called “the fatal brain drain”. Doctors emigrate because they do not receive adequate education at home. Regardless of the amount of money governments may invest into a newly established department, three things can simply not be bought: knowledge, experience and skills.

skin grafting is a type of graft surgery involving the transplantation of skin. The transplanted tissue is called a skin graft.^[1]

Skin grafting is often used to treat: Extensive wounding or trauma , Burns Areas of extensive skin loss due to infection such as necrotizing fasciitis or purpura fulminans, Specific surgeries that may require skin grafts for healing to occur – most commonly removal of skin cancers

Skin grafts are often employed after serious injuries when some of the body’s skin is damaged. Surgical removal (excision or debridement) of the damaged skin is followed by skin grafting. The grafting serves two purposes: reduce the course of treatment needed (and time in the hospital), and improve the function and appearance of the area of the body which receives the skin graft.

There are two types of skin grafts, the more common type is where a thin layer is removed from a healthy part of the body (the donor section) like peeling a potato, or a full thickness skin graft, which involves pitching and cutting skin away from the donor section. A full thickness skin graft is more risky, in terms of the body accepting the skin, yet it leaves only a scar line on the donor section, similar to a Cesarean section scar. For full thickness skin grafts, the donor section will often heal much more quickly than the injury and is less painful than a partial thickness skin graft.

Graft taxonomy

• Autologous: The donor skin is taken from a different site on the same individual’s body (also known as an autograft).
• Isogeneic: The donor and recipient individuals are genetically identical (e.g., monozygotic twins, animals of a single inbred strain; isograft or syngraft).
• Allogeneic: The donor and recipient are of the same species (human→human, dog→dog; allograft).
• Xenogeneic: The donor and recipient are of different species (e.g., bovine cartilage; xenograft or heterograft).
• Prosthetic: Lost tissue is replaced with synthetic materials such as metal, plastic, or ceramic (prosthetic implants).

Split-thickness

A split-thickness skin graft (STSG) is a skin graft including the epidermis and part of the dermis. Its thickness depends on the donor site and the needs of the patient. It can be processed through a skin mesher which makes apertures onto the graft, allowing it to expand up to nine times its size. Split-thickness grafts are frequently used as they can cover large areas and the rate of autorejection is low. You can take from the same site again after six weeks.^[4] The donor site heals by re-epitheliasation from the dermis and surrounding skin and requires dressings.

Full-thickness

A full-thickness skin graft consists of the epidermis and the entire thickness of the dermis. The donor site is either sutured closed directly or covered by a split-thickness skin graft.

Composite graft

A composite graft is a small graft containing skin and underlying cartilage or other tissue. Donor sites include, for example, ear skin and cartilage to reconstruct nasal alar rim defects.

When grafts are taken from other animals, they are known as heterografts or xenografts. By definition, they are temporary biologic dressings which the body will reject within days to a few weeks. They are useful in reducing the bacterial concentration of an open wound, as well as reducing fluid loss.

For more extensive tissue loss, a full-thickness skin graft, which includes the entire thickness of the skin, may be necessary. This is often performed for defects of the face and hand where contraction of the graft should be minimized. The general rule is that the thicker the graft, the less the contraction and deformity.

Cell cultured epithelial autograft (CEA) procedures take skin cells from the patient to grow new skin cells in sheets in a laboratory. The new sheets are used as grafts, and because the original skin cells came from the patient, the body does not reject them. Because these grafts are very thin (only a few cell layers thick) they do not stand up to trauma, and the “take” is often less than 100%. Newer grafting procedures combine CEA with a dermal matrix for more support.Search is investigating the possibilities of combining CEA and a dermal matrix in one product.

Experimental procedures are being tested for burn victims using stem cells in solution which are applied to the burned area using a skin cell gun. Recent advances have been successful in applying the cells without damage.

Surgical procedure

Split skin graft donor site 8 days after the skin was taken

In order to remove the thin and well preserved skin slices and strips from the donor, surgeons use a special surgical instrument called a dermatome. This usually produces a split-thickness skin graft, which contains the epidermis with only a portion of the dermis. The dermis left behind at the donor site contains hair follicles and sebaceous glands, both of which contain epidermal cells which gradually proliferate out to form a new layer of epidermis. The donor site may be extremely painful and vulnerable to infection.

The graft is carefully spread on the bare area to be covered. It is held in place by a few small stitches or surgical staples. The graft is initially nourished by a process called plasmatic imbibition in which the graft “drinks plasma”. New blood vessels begin growing from the recipient area into the transplanted skin within 36 hours in a process called capillary inosculation. To prevent the accumulation of fluid under the graft which can prevent its attachment and revascularization, the graft is frequently meshed by making lengthwise rows of short, interrupted cuts, each a few millimeters long, with each row offset by half a cut length like bricks in a wall. In addition to allowing for drainage, this allows the graft to both stretch and cover a larger area as well as to more closely approximate the contours of the recipient area. However, it results in a rather pebbled appearance upon healing that may ultimately look less aesthetically pleasing.^[5]

An increasingly common aid to both pre-operative wound maintenance and post-operative graft healing is the use of negative pressure wound therapy (NPWT). This system works by placing a section of foam cut to size over the wound, then laying a perforated tube onto the foam. The arrangement is then secured with bandages. A vacuum unit then creates negative pressure, sealing the edges of the wound to the foam, and drawing out excess blood and fluids. This process typically helps to maintain cleanliness in the graft site, promotes the development of new blood vessels, and increases the chances of the graft successfully taking. NPWT can also be used between debridement and graft operations to assist an infected wound in remaining clean for a period of time before new skin is applied. Skin grafting can also be seen as a skin transplant

Risks for the skin graft surgery are Bleeding Infection Loss of grafted skin Nerve damage Graft-versus-host disease Rejection may occur in xenografts. To prevent this, the patient usually must be treated with long-term immunosuppressant drugs.

Most skin grafts are successful, but in some cases they do not heal well and require repeat grafting. The graft should also be monitored for good circulation.

Recovery time from skin grafting can be long. Patients should wear compression garments for several months and should be monitored for depression and anxiety endemic to long-term pain and loss of function.

(Wikipedia)

Craniosynostosis

 

Craniosynostosis  is a condition in which one or more of the fibrous sutures in an infant skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpendicular to the fused suture, it compensates by growing more in the direction parallel to the closed sutures. Sometimes the resulting growth pattern provides the necessary space for the growing brain, but results in an abnormal head shape and abnormal facial features. In cases in which the compensation does not effectively provide enough space for the growing brain, craniosynostosis results in increased intracranial pressure leading possibly to visual impairment, sleeping impairment, eating difficulties, or an impairment of mental development combined with a significant reduction in IQ

Craniosynostosis occurs in one in 2000 births. Craniosynostosis is part of a syndrome in 15 to 40% of the patients, but it usually occurs as an isolated condition.

 

Cranial sutures

 

The sutures

The mesenchyme above the meninges undergoes intramembranous ossification forming the neurocranium.The neurocranium consists of several bones, which are united and at the same time separated by fibrous sutures. This allows movement of the separate bones in relation to one another; the infant skull is still malleable.The fibrous sutures specifically allow the deformation of the skull during birth and absorb mechanical forces during childhood. They also allow the necessary expansion during brain growth.

In the very first years of life the sutures serve as the most important centers of growth in the skull. The growth of the brain and the patency of the sutures depend on each other. Brain growth pushes the two sides of the patent sutures away from each other, thereby enabling growth of the neurocranium. This means that the neurocranium can only grow if the sutures remain open. The neurocranium will not grow when the forces induced by brain growth are not there. This will occur for example when the intracranial pressure drops; the sutures do not experience stretching anymore causing them to fuse.

The infant’s skull consists of the metopic suture, coronal sutures, sagittal suture, and lambdoid sutures. The metopic suture is supposed to close between three to nine months of age. The lambdoid, sagittal and coronal sutures are supposed to close between 22 to 39 years of age.

Causes of premature fusion

Advances in the fields of molecular biology and genetics, as well as the use of animal models have been of great importance in expanding our knowledge of suture fusion. Research in animal models has led to the idea that the dura mater plays  an important role in determining closure or patency of the suture. In contrast to the dura mater it appears that the periosteum is not essential in causing closure or patency.

Instead of describing the abnormalities in structure and form, research focuses nowadays at decoding the molecular interactions that underlie them. Despite the progress that has been made, many things are still not understood about the suture biology and the exact causative pathways remain yet to be completely understood.

Multiple potential causes of premature suture closure have been identified, such as the several genetic mutations that are associated with syndromic craniosynostosis. The cause of nonsyndromic craniosynostosis however, is still greatly unknown. Most likely, a role is played by biomechanical factors, as well as environmental, hormonal and genetical factors.

Biomechanical factors

Biomechanical factors include fetal head constraint during pregnancy. It has been found by Jacob et al. that constraint inside the womb is associated with decreased expression of Indian Hedgehog protein and noggin. These last two are both important factors influencing bone development.

Environmental factors

Environmental factors refer for example to maternal smoking and the maternal exposure to amine-containing drugs. Several research groups have found evidence that these environmental factors are responsible for an increase in the risk of craniosynostosis, likely through effects on fibroblast growth factor receptor genes.

On the other hand, a recent evaluation of valproic acid (an anti-epilepticum), which has been implicated as a causative agent, has shown no association with craniosynostosis.

Hormonal factors

Hyperthyroid induced craniosynostosis is a hormone mediated premature closure. It is thought that the bone matures faster due to high levels of thyroid hormone.

Genetic factors

In 6 to 11% of the children born with coronal synostosis, more often involving the bilateral cases than unilateral, other members of the family have been reported that were also born with the same condition. This finding is highly suggestive of a genetic cause, which has possibly been found in the fibroblast growth factor receptor 3 (FGFR3) and TWIST genes.

Fibroblast growth factor and fibroblast growth factor receptors regulate fetal bone growth and are expressed in cranial sutures during pregnancy. The transcription factor gene TWIST is thought to decrease the function of FGFR, thus also indirectly regulating fetal bone growth. A relation between the mutations in these genes and craniosynostosis is therefore possible. Moloney et al. observed a FGFR3 mutation in as many as 31% of the cases with nonsyndromic coronal synostosis, thus showing that FGFR abnormalities play an important role in nonsyndromic craniosynostosis.

In terms of syndromic craniosynostosis not only do FGFR3 and TWIST genes feature, but also FGFR1 and in particular FGFR2, which has been reported in 90% of the syndromic craniosynostoses such as Apert, Crouzon, Peiffer and Jackson-Weiss. The mutations can be divided into mutations that lead to gain of function (in FGFR genes) and mutations that lead to loss of function (in TWIST genes). Craniosynostosis is therefore likely the result of a disturbance in the fine balance that regulates the multiplication and maturation of the precursor bone cells in the cranial sutures.

Discussion

New insights have given fuel to a debate whether there might be an intrinsic factor causing the premature fusion of the sutures. Brain structures of children with craniosynostosis were evaluated using magnetic resonance imaging. Differences were seen compared with the brain structures of normal children. The question now is whether these differences are caused by the craniosynostosis, or are the cause of craniosynostosis.

Phenotype

Children born with craniosynostosis have a distinct appearance, otherwise known as the phenotype. The features of the phenotype are determined by which particular suture is closed.The fusion of this suture causes a certain change in the shape of the skull; a deformity of the skull.

Virchow’s law dictates that, when premature suture closure occurs, growth of the skull is typically restricted perpendicular to the fused suture and enhanced in a plane parallel to it, thus trying to provide space for the fast growing brain. Using this law, the pattern of skull deformity in craniosynostosis can often be predicted.

Scaphocephaly

An illustrative example of this phenomenon is scaphocephaly; the name providing a direct hint regarding the deformity of the skull. The literal meaning of the Greek derived word ‘scaphocephaly’ is boathead. A synonymous term is ‘dolichocephaly’ (the prefix dolicho- means elongated). Premature sagittal suture closure restricts growth in a perpendicular plane, thus the head will not grow sideways and remain narrow. This is best seen in a view standing above the child looking downwards at the top of the head. Compensatory growth occurs forwards at the coronal suture and backwards at the lambdoid suture giving respectively a prominent forehead, called frontal bossing, and a prominent back portion of the head, called coning. When viewed from sideways the resulting shape of the head will look a bit like a boat.

Diagnosis and preoperative assessment

The evaluation of a child suspected to have craniosynostosis is preferentially performed in a craniofacial center. The three main elements of analysis include medical history, physical examination and radiographic analysis.

Medical history

Medical history should in any case include questions about risk factors during pregnancy, the familial rate and the presence of symptoms of elevated intracranial pressure (ICP).

Risk factors during pregnancy

• Certain medication (like amine-containing drugs) can increase the risk of craniosynostosis when taken during pregnancy, these are so-called teratogenic factors.

 

The familial rate

• The familial rate, which is different for nonsyndromic and syndromic cases, provides an important clue. In the nonsyndromic cases, a positive family history is found in 2% of the cases with sagittal suture closure and in 6 to 11% of the cases with coronal suture closure. In the syndromic cases, approximately 50% of the children may present with a positive family history.

Symptoms of elevated ICP

• Symptoms of increased intracranial pressure – such as headache and vomiting – should be questioned after. An elevation of ICP can be present in 4 to 20% of the children where only a single suture is affected. The incidence of ICP in children with more than one suture involved can be as high as 62%. However, even though the children are affected, symptoms are not always present.

Physical examination

Fundoscopy should always be performed in children with craniosynostosis. It is used to find papilledema which is sometimes the only symptom of elevated intracranial pressure shown in these children.

Other parts of the physical examination include the measurement of the head circumference, the assessment of the skull deformity and the search for deformities affecting other parts of the body. The head circumference and the growth curve of the head provide important clues into making a differentiation between craniosynostosis, primary microcephaly and hydrocephalus. This differentiation has an important influence on the further treatment of the child.

In a recent article Cunningham et al. described several steps in which a pediatrician should observe the patient to assess skull deformity:

• The first is looking with a bird’s eye view at the patient while the patient preferably faces the parent while sitting on the parents lap. The goal is to assess the shape of the forehead, the skull length, the width of the skull, position of the ears and the symmetry of the frontal bones and [occiput].
• The second is looking at the patient from behind while preferably the child is in the same position as described above. It is important to look at the skull base (to determine whether it is level or not), the position of the ears and to the mastoid (to spot the possible presence of a bulge).
• The third point of view is the frontal view. The points to look at are: eye position, eye symmetry and twisting of the nasal tip.

The implications of the deformities that are seen are extensively discussed under ‘phenotype’.

Syndromal craniosynostosis presents with a skull deformity as well as deformities affecting other parts of the body. Clinical examination should in any case include evaluation of the neck, spine, digits and toes.

Radiographic analysis

Radiographic analysis by performing a computed axial tomographic scan is the gold standard for diagnosing craniosynostosis.

Plain radiography of the skull may be sufficient for diagnosing a single suture craniosynostosis and should therefore be performed, but the diagnostic value is outweighed by that of the CT-scan.Not only can the sutures be identified more accurately, thus objectively demonstrating a fused suture, but also evaluation of the brain for structural abnormalities and excluding other causes of asymmetric growth are possible at the same time. In addition to this, CT-scanning can visualize the extent of skull deformity, thereby enabling the surgeon to start planning surgical reconstruction.

Elevated intracranial pressure

When the ICP is elevated the following symptomes may occur: vomiting, visual disturbance, bulging of the anterior fontanel, altered mental status, papilledema and headache.

The main risks of prolonged elevated intracranial pressure may include cognitive impairment and impaired vision through prolonged papilledema. These are the main reasons why fundoscopy should be performed during the physical examination of children with craniosynostosis.

The causes of an elevation of the intracranial pressure are best understood using the Monro-Kellie doctrine. The Monro-Kellie doctrine reduces the cranial vault to a box with rigid walls. This box contains three elements: brain, intracranial blood and cerebrospinal fluid.The sum of volumes of these three elements is constant. An increase in one should cause a decrease in one or both of the remaining two, thereby preventing an elevation of the intracranial pressure. A compensatory mechanism involves the movement of cerebrospinal fluid from the cranial vault towards the spinal cord. The volume of blood in the cranial vault is auto-regulated by the brain, and will therefore not decrease that easily.

Intracranial pressure will rise as a result of continued brain growth within the rigid skull. It appears that in children with craniosynostosis, the expected decrease of intracranial blood is probably not occurring as it should according to the Monro-Kellie hypothesis. This is shown when the brain expands in the fixed skull, which gives a faster rise in intracranial pressure than would be expected.

Obstructive sleep apnea

The short stops in breathing during the sleep are the mainstay of OSA. Other symptoms can be difficulty in breathing, snoring, day-time sleepiness and perspiration. The main causative agent of OSA is the [midface hypoplasia], which also poses a risk to the eyes that can be seen bulging out of the eye sockets. Other factors, such as a micrognathism and adenoid hypertrophy, are likely to contribute in causing OSA. The most common syndromic forms of craniosynostosis; i.e. Apert, Crouzon and Pfeiffer, have an increased risk of developing OSA. The children have nearly 50% chance of developing this condition.

A theory regarding the involvement of OSA as a causative agent for elevated intracranial pressure suggests an association with the auto-regulation of blood flow in the brain. Certain cells in the brain respond specifically to an increase of CO2 in the blood. The response involves vasodilatation of the cranial vault blood vessels, increasing the volume of one of the elements in the Monro-Kellie doctrine. The increase of CO2 concentration in the blood is a consequence of impaired breathing, especially seen when the child suffering from OSA is sleeping. It is well documented that the highest spikes in intracranial pressure often occur during sleep.

Abnormalities in the skull base

Impaired venous outflow is often caused by a hypoplastic jugular foramen. This causes an increase in the intracranial blood volume, thereby causing an increase in intracranial pressure.

This can be further complicated with a possible Arnold-Chiari malformation, which can partially obstruct the flow of liquor from the neurocranium to the spinal cord. The Chiari malformation may be asymptomatic or present with ataxia, spasticity or abnormalities in breathing, swallowing or sleeping.

Due to the impaired venous outflow, which may be further complicated with an Arnold-Chiari malformation, there is often a clinical image of hydrocephalus present. Hydrocephalus is seen in 6.5 to 8% of patients with Apert’s syndrome, 25.6% in patients with Crouzon’s syndrome and 27.8% of those with Pfeifer’s syndrome. Ventriculomegaly is a usual finding in children with the Apert syndrome.

Neurobehavioural impairment

Neurobehavioural impairment includes problems with attention and planning, processing speed, visual spatial skills, language, reading and spelling. A decreased IQ may also be part of the problems.

It has been suggested that these problems are caused by a primary malformation of the brain, rather than being a consequence of the growth restriction of the skull and elevated intracranial pressure. Some evidence for this statement has been provided by studies using computed tomographic (CT scans) and magnetic resonance imaging (MRI) to identify differences between the structures of the brains of healthy children and those affected with craniosynostosis. It has been found that corrective surgery of the cranial vault alters the morphology of the brain compared with the situation before surgical intervention. However the structure was still abnormal in comparison to children without craniosynostosis.

Treatment

Goal of surgery

The primary goal in surgical intervention is to allow normal cranial vault development to occur. This can be achieved by excision of the prematurely fused suture and correction of the associated skull deformities. If the synostosis goes uncorrected, the deformity will progressively worsen not only threatening the aesthetic aspect, but also the functional aspect. This is especially the case in the asymmetric conditions, such as unilateral coronal synostosis, with compromised function of the eyes and the jaw. In addition signs of compromised neurodevelopment have been seen amongst all the synostoses, although this may also be caused by primary maldevelopment of the brain and can thus not be prevented by surgical intervention.

Timing of surgery

The prevention of the complications mentioned above plays an important role in the discussion about the timing of the surgery. The general consensus is now to perform surgery in early infancy, i.e. between six to twelve months. In this time frame the efficacy of surgery is enhanced due to several reasons:

• The bone is still more malleable and can be remodelled relatively ‘simply’ by greenstick fractures of the bone. At approximately one year of age the bone has become more mineralized and brittle and needs to be fastened to the surrounding bone with sutures or an absorbable plate.
• Reshaping of the cranial vault most commonly means excision of the bones and adjustment of the shape. Replacement of the bones can leave ‘gaps’ which are readily re-ossified before the age of one year, but need bony filling thereafter.

The reason why most surgeons will not intervene until after the age of six months is the greater risk that blood loss poses before this age. If possible it is preferred to wait until after three months of age when the anaesthetic risks are decreased.

Surgery is not performed in early childhood in every country. In some countries surgical intervention can take place in the late teens.

It is important that families seek out a Pediatric Craniofacial Physician who has experience with craniosynostosis for proper diagnosis, surgical care, and followup.

Basic elements of surgery

There are a few basic elements involved in the surgical intervention aimed at normalization of the cranial vault.

• One is minimization of blood loss, which is attempted by injection of vasoconstrictive agents (i.e. epinephrine) seven to ten minutes before scalp incision. In addition is the initiation of surgery delayed until blood products are physically present in the operating room.
• Another general agreement is the avoidance of the use of titanium plates in the fixation of the skull. The complication following this procedure is gradual movement of the titanium plates towards the brain, induced by resorption of the innermost bone layer of the skull and deposition of new bone on the outermost layer, thereby integrating the titanium plates. In some cases, the plates were even seen coming in direct contact with the brain. Absorbable plates are now used instead.

Surgical intervention per particular fused suture

Sagittal craniosynostosis/scaphocephaly

There are two surgical procedures which are commonly used to treat sagittal synostosis. Which of the two is the best is still heavily debated amongst the surgeons treating this condition. It is generally agreed upon that the cephalic index should be used to assess the efficacy of the surgical intervention.

• Firstly, the extended strip craniectomy will be discussed, which is a further developed form of the traditional craniectomy.The traditional procedure involved only the excision of the closed suture, hoping that the compensatory skull deformations would automatically be corrected by the fast growth of the brain during the first year of life.This did not quite result in a true normalization of the cranial vault, causing the development of numerous modifications. One of those is the extended strip craniectomy. This procedure can be performed by using an endoscope and became more popular due to rapid recovery of the child and the reduced need for blood transfusion. The patient is afterwards placed in a custom made molding helmet to correct the resting deformities of the skull.
• With the total cranial vault remodelling, which is the other widely used surgical procedure, the compensatory deformities are corrected during the operation, in addition to excision of the fused suture. Most of the bones that together form the cranial vault – i.e. the frontal, the parietal and the occipital bones – are removed and reshaped to normalize the contours. The bones are then replaced and fixated to form a cranial vault with a normalized shape.

Retrospective analysis has given indication that the use of total cranial vault remodelling provides the children with a better cephalic index than does the extended strip craniectomy.

An approach that is currently evaluated is the use of springs. This intervention is likely most effective when used in the time frame between three to six months.

Metopic synostosis/trigonocephaly

The main elements of metopic suture closure are a low volume of the anterior cranial fossa, the metopic ridging and hypotelorism. These problems are all addressed during the surgical intervention.

The volume is increased by placing the frontal bones and the supraorbital rim further forward. This is done by excision of the bones after which they are reshaped with greenstick fracturing. Replacement of the bones provides a possibility for the correction of the hypotelorism at the same time. A bone graft is placed in between the two halves of the supraorbital bars, thereby increasing the width between the orbits. The metopic ridge can be corrected with a (simple) burring.

Unilateral coronal synostosis/anterior plagiocephaly

The treatment of unilateral coronal synostosis typically exists out of two parts: the forward advancement of the supraorbital bar and the correction of the orbital asymmetry.

The supraorbital bar is the rim just above the eye socket. As discussed under phenotype, the supraorbital and the frontal bone are typically recessed at the ipsilateral side of the head. The goal is to position this bar together with the frontal bone in a plane three millimetres further forwards than the vertical plane of the cornea. A two-dimensional sagittal image is used to pre-operatively determine the extent of movement, which can vary between seven to fifteen millimetres, depending on the severity of the deformity.

The orbital asymmetry exists typically of a narrower and taller orbit at the ipsilateral side of the head. The contralateral orbit, however, is wider than usual. The symmetry is restored by extracting a small piece of bone from the supraorbital bar at the contralateral side, thereby reducing the width. This bone fragment is introduced into the supraorbital bar on the ipsilateral side, thereby increasing the width. The height of the orbit is just altered at the ipsilateral side, by extracting a piece of bone. The correction of the nasal tip, which points towards the contralateral side, is not performed during childhood.

Unilateral lambdoid synostosis/posterior plagiocephaly

An excision of the flattened occipital bone with release of the fused suture tends to correct the cranial vault deformity.

Bilateral coronal synostosis/brachycephaly

The treatment of bilateral coronal synostosis shows great overlap with the treatment of unilateral coronal synostosis; in both surgical interventions is the forward advancement of the supraorbital rim together with the frontal bones an important part of the procedure. Again is the plane three millimetres further forwards than the vertical plane of the [cornea] the appropriate position to place the bone. The increased height of the skull is addressed in the same procedure. Parts of the flattened occiput are extracted and given a rounder shape by greenstick fracturing them.

Pansynostosis/kleeblattschädel

The treatment of pansynostosis comprises the expansion of the anterior cranial vault, as well as the posterior cranial vault. This can be accomplished in one procedure, but is generally performed in two.

 

(Wikipedia)

Congenital disorder

A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life (neonatal disease), regardless of causation. Of these diseases, those characterized by structural deformities are termed “congenital anomalies” and involve defects in or damage to a developing fetus. A congenital disorder may be the result of genetic abnormalities, the intrauterine (uterus) environment, errors of morphogenesis, infection, or a chromosomal abnormality. The outcome of the disorder will depend on complex interactions between the pre-natal deficit and the post-natal environment. Some congenital conditions are idiopathic, and sometimes the word “congenital” is used synonymously with “idiopathic”; but careful usage prefers to reserve the word “congenital” for conditions to which the literal sense of the word applies (that is, those whose pathophysiology has existed since the neonatal period).

Primarily structural

Several terms are used to describe congenital abnormalities. (Some of these are also used to describe noncongenital conditions, and more than one term may apply in an individual condition.)

A congenital physical anomaly is an abnormality of the structure of a body part. An anomaly may or may not be perceived as a problem condition. Many, if not most, people have one or more minor physical anomalies if examined carefully. Examples of minor anomalies can include curvature of the 5th finger (clinodactyly), a third nipple, tiny indentations of the skin near the ears (preauricular pits), shortness of the 4th metacarpal or metatarsal bones, or dimples over the lower spine (sacral dimples). Some minor anomalies may be clues to more significant internal abnormalities.

Birth defect is a widely used term for a congenital malformation, i.e. a congenital, physical anomaly which is recognizable at birth, and which is significant enough to be considered a problem. According to the CDC, most birth defects are believed to be caused by a complex mix of factors including genetics, environment, and behaviors,^[1] though many birth defects have no known cause. An example of a birth defect is cleft palate.

A congenital malformation is a congenital physical anomaly that is deleterious, i.e. a structural defect perceived as a problem. A typical combination of malformations affecting more than one body part is referred to as a malformation syndrome.

Some conditions are due to abnormal tissue development:

A malformation is associated with a disorder of tissue development.^[4] Malformations often occur in the first trimester.

A dysplasia is a disorder at the organ level that is due to problems with tissue development.^[4]

It is also possible for conditions to arise after tissue is formed:

A deformation is a condition arising from mechanical stress to normal tissue.^[4] Deformations often occur in the second or third trimester, and can be due to oligohydramnios.

A disruption involves breakdown of normal tissues.^[4]

When multiple effects occur in a specified order, it is known as a sequence. When the order is not known, it is a syndrome.

Causes

Toxic substances

Further information: Developmental toxicity, Drugs in pregnancy, and Environmental toxins and fetal development

Substances whose toxicity can cause congenital disorders are called “teratogens”, and include certain pharmaceutical and recreational drugs in pregnancy as well as many environmental toxins in pregnancy.

It is estimated that 10% of all birth defects are caused by prenatal exposure to a teratogenic agent^. These exposures include, but are not limited to, medication or drug exposures, maternal infections and diseases, and environmental and occupational exposures.

Infections

Main article: Vertically transmitted infection

A vertically transmitted infection is an infection caused by bacteria, viruses or, in rare cases, parasites transmitted directly from the mother to an embryo, fetus or baby during pregnancy or childbirth. It can occur when the mother gets an infection as an intercurrent disease in pregnancy.

Lack of nutrients

Nutrition in pregnancy: For example, a lack of folic acid in the diet of a mother can cause cellular neural tube deformities that result in spina bifida.

Physical restraint

External physical shocks or constrainment due to growth in a restricted space, may result in unintended deformation or separation of cellular structures resulting in an abnormal final shape or damaged structures unable to function as expected. An example is Potter syndrome due to oligohydramnios.

Genetic causes

Main article: Genetic disorder

Genetic causes of congenital anomalies include inheritance of abnormal genes from the parents, as well as new mutations in one of the germ cells that gave rise to the fetus.

Unknown or multifactorial

Although significant progress has been made in identifying the etiology of some birth defects, approximately 65% have no known or identifiable cause^. These are referred to as sporadic, a term that implies an unknown cause, random occurrence regardless of maternal living conditions and a low recurrence risk for future children.

Role of radiation

For the survivors of the atomic bombing of Hiroshima and Nagasaki, who are known as the Hibakusha, no statistically demonstrable increase of birth defects/congenital malformations was found among their later conceived children, or found in the later conceived children of cancer survivors who had previously received radiotherapy^. The surveving women of Hiroshima and Nagasaki who were able to conceive, though exposed to substantial amounts of radiation, went on and had children with no higher incidence of abnormalities/birth defects than in the Japanese population as a whole.

Congenital anomalies resulted in about 510,000 deaths globally in 2010.

Many studies have found that the frequency of occurrence of certain congenital malformations depends on the sex of the child (table).

About 3% of newborns have a “major physical anomaly”, meaning a physical anomaly that has cosmetic or functional significance.

Physical congenital abnormalities are the leading cause of infant mortality in the United States, accounting for more than 20% of all infant deaths. Seven to ten percent of all children will require extensive medical care to diagnose or treat a birth defect.

(Wikipedia)