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Craniofacial Procedures

Cleft Lip and Palate - Craniosynotosis
Hemangiomas
- Plagiocephally
- Apert Syndrome - Abnormal head Shape

Apert Syndrome

What is Apert Syndrome?

Apert Syndrome is a genetic defect that falls under the broad classification of craniofacial and limb anomalies. The condition can be inherited from a parent who has Apert, or it might be a fresh mutation. Apert's happens in about one per 160,000 to 200,000 live births. Apert's Syndrome is primarily characterized by specific malformations of the skull, midface, hands and feet.

What are the Symptons of Apert Syndrome?

The condition is primarily characterized by specific malformations of the skull, midface, hands, and feet. The skull is prematurely fused and unable to grow normally. The midface (that area of the face from the middle of the eye socket to the upper jaw) appears retruded or sunken; and the fingers and toes are fused together in varying degrees. Apert syndrome is named for the French physician who first described it in 1906, E. Apert.

Other symptoms may include:

  • Prominent or bulging eyes with eyelids that tilt downward.
  • Intellectual development maybe retarded to varying degrees.
  • Short stature.
  • Hearing loss
  • Frequent ear infections.

How Does Apert Syndrome Occur?

In a normal child, the skull is made up of several "plates" which remain loosely connected to one another, gradually growing together to form the adult skull. The Apert child's skull, by contrast, has a premature fusion of these plates, restricting brain growth, and causing increased pressure in the brain as it grows. This is known as craniosynostosis. Early surgery relieves the pressures by allowing the plates to be detached from one another. During this early surgery some "cranial remodeling" may be done to give the child a more normal appearance.

The "retrusion" or hypoplasia of the midface is what could be described as concave or dished in profile. As the skull grows, the upper and lower thirds of the face tend to grow at normal rates, but the middle third of the face grows slower, resulting in a more pronounced retrusion over time. Apert syndrome is a result of genetic mutation. If you have Apert syndrome, you have a one in two (50%) chance of passing this condition to your child. This is because each of us gets 1/2 of our genetic makeup from each parent. However, Apert is not a recessive trait, which means that the UNaffected child of a parent with Apert syndrome is no more likely to have a child with Apert than any other person; also, if you have a child with Apert and you do NOT have Apert, YOU are no more likely to have another child with Apert than anyone else in the population. Studies have shown that Apert occurs more often in children of older fathers.

When Apert Syndrome is in the family history, genetic counseling is recommended.

What Treatments are Available?

Because it's a genetic condition, there is no cure for Apert syndrome but much can be done to prevent or treat complications and to help the child grow as normally as possible. A surgical procedure known as the LeFort III is used to correct this condition. The procedure is usually done after substantial growth is complete (preadolescence) and may be repeated as necessary. The LeFort procedure involves detaching the facial bones from mid eye to upper jaw and spacing this area out with bone grafts so that a proper alignment is made. In the last few years, some surgeons have come to prefer the Rigid External Distraction (RED) system or internally placed distractors, instead of or in conjunction with, traditional craniofacial surgery. With the RED procedure, the bone is gradually pulled forward instead of moved at once during surgery. That leads to new bone over time. If the forehead has not grown well either, a procedure called "monoblock" may be used. Moreover, your child may need a frontal-orbital advancement within the first twelve months to increase space within the skull and the size of both orbits (the part of the skull that holds the eyeball,) a facial bi-partition to widen the upper jaw and to narrow the upper face. During the teen years, an osteotomy (cutting through the bone of the upper and lower jaw) may be needed to correct further problems. The severity of your child's Apart syndrome determines whether those procedures are needed.

Are Other Parts of the Body Affected?

The fusion of the fingers and toes along with the craniofacial problems mentioned above is what really separates Apert from other similar syndromes. This condition is called syndactyly. It always involves fusion of the soft tissues of the first, middle, and ring fingers, and often there is fusion of the bones themselves. Joint mobility is usually nonexistent past the first joint. The thumb may be fused into the hand, or may be free. Surgery is used to separate the fingers as needed for better function.

When is Surgery Necessary?

Surgery is used to separate the fingers to obtain the highest degree of functionality, and may or may not ultimately result in five digits on each hand. It varies according to the degree of malformation. The feet and toes are affected similarly, but surgery is usually only recommended in cases where the ability to walk would be impaired.

Ideally, treatment of Apert begins at birth with the proper diagnosis, identification of the child's individual needs, including early use of hearing aids, airway management and the proper facilities to administer what is needed. When the child is a little older, he or she should have psychological counseling with attachment and interaction with children his own age. A multidisciplinary approach is used by physicians in the best arrangements. A craniofacial anomalies team may consist of a craniofacial surgeon, neurosurgeon, ENT, audiologist, speech pathologist, oral surgeon, psychologist, ophthalmologist, and an orthodontist. The team approach is used by these physicians to determine the best collaborative corrective plan for the deficiencies of the child.

What are the Possible Medical Complications of a Child with Apert Syndrome?

Potential exists for eye or brain injury if pressure on the skull lasts; hydrocephalus may result if intracranial pressure is not reduced; wounds can become infected; cerebrospinal fluid may leak and the child's airway can become obstructed resulting in respiratory insufficiency and sleep apnea.

What are the Risks to Apert surgery?

Minor complications include infections of the skin, around the stitches, collections of blood under the skin and hair loss. Orthodontic care is almost always required, especially if the jaw is moved. Tooth loss may occur. Scalp and face numbness is common, especially after surgery. That complication may or may not get better with time. Bruising and swelling always occur to some degree. More severe infections may occur especially if distractors to move bone are used. Severe bleeding may need blood transfusions. Double vision and other vision problems may occur that may need eye surgery. Blindness, brain damage and eath are extremely rare.

What is the Outlook for Children with Apert Syndrome?

The Prognosis largely depends on the child's age at the first operation. Craniosynostosis can result in brain compression and mental retardation unless relieved by early craniectomy. Innovations in craniofacial surgery have enabled children with Apert syndrome to achieve their full potential by maximizing their opportunities for intellectual growth, physical competence, and social acceptance. However, early surgical treatment of craniosynostosis may not alter intellectual outcome.

Quality of the family environment is another factor involved in intellectual achievement. Only 12.5% of children with Apert syndrome who are institutionalized reach a normal I.Q. level, compared to 39.3% of children from a healthy family background.

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