Craniofacial Surgery in Genetically Abnormal Individuals: An Overview

Introduction:

Around ten out of a thousand people are affected by genetic disorders around the world. Many of them can be single disorders of the gene that can be autosomal recessive or dominant. All these genetic factors compiled together result in affecting the body both externally and internally, resulting in physical and mental defects. One such condition is the craniofacial anomaly, occurring as a genetic condition affecting the facial features of the skull and head. These conditions normally compromise the facial esthetics, growth, and development of the bones, brain, and face and affect speech, hearing, or vision. In order to overcome this scenario, multiple surgical interventions came into practice that helped fix the abnormalities and restore function and form.

What Is a Genetic Disorder and What Are Its Types?

Genetic conditions occur as a result of uncoordinated cellular mutation, influenced by genetic material insufficiency or improper gene coding. Some genetic disorders are:

• Huntington’s Disease: This condition is a genetic disease of the brain cells that is characterized by gradual degeneration of the nerve cells.

• Sickle Cell Anemia: This is a clinical condition where the red blood cells of the anemic person appear to be in a sickle shape.

• Downs Syndrome: This is a genetic condition. Occurring due to the trisomy of the 21st chromosome.

• Turners Syndrome: This is a genetic condition that affects females, mainly resulting in conditions like short stature, delayed development, a webbed neck, etc.

• Klinefelter Syndrome: This condition is characterized by the presence of an extra X chromosome in male patients as a result of a genetic abnormality.

• Cystic Fibrosis: This condition is characterized by the deposition of sticky mucus around the organs. It is genetic and can lead to deleterious effects on the digestive system, lungs, and other body parts.

What Are Craniofacial Anomalies?

Craniofacial anomalies are a group of numerous deformities of the skull involving the facial bones and head. The anomaly is characterized by abnormally looking skull and facial bones, seen from birth, that vary from mild to severe conditions, that over the period, might need surgery. These anomalies are normally seen as individual anomalies or associated with other bony deformities.

What Are the Factors Leading To Craniofacial Anomalies?

Various factors trigger the development and defect of craniofacial bones, and they are:

• Changes in the genetic factors.

• Abnormality in the combination of genes.

• Environmental factors.

• Deficiency of folic acid.

What Are the Commonly Seen Craniofacial Anomalies?

Some of the common craniofacial anomalies are:

• The Cleft in the Lip and Palate - This is a clinical condition characterized by a deformity of the lip or palate.

• Craniosynostosis - It is a clinical condition characterized by early closure of the bony sutures, affecting the normal growth of the brain and skull.

• Malformation of the Vasculature - This appears as a birthmark or a growth composed of blood vessels, causing functional as well as esthetic problems.

• Hemifacial Microsomia - This is a clinical condition characterized by an underdeveloped face on the side involving both the face and skull.

• Plagiocephaly - Plagiocephaly condition is characterized by a misshapen head due to constant pressure in the head.

• Hemangioma - Hemangioma is a bloodstained birthmark that occurs from a blood vessel.

• Craniosynostosis - The fusing of bones in the child's skull during birth causes craniosynostosis. As a result, the condition restricts or slows the child's brain's growth and development. Multiple surgical procedures are performed to overcome this until the required degree of skull expansion is reached. The operation is accomplished by remodeling the cranial vault, treating the skull bones using an endoscope, or using non-surgical approaches such as helmet treatment, in which the growth of the skull is directed under guided circumstances.

What Is Craniofacial Surgery?

Craniofacial surgery is the structural reconstruction of the skull and facial bones, restoring the physical and functional form. The bones of the skull consist of twenty-two bones that can be divided into bones of the cranium and the face. There are eight bones in the cranium, namely:

1. The frontal.

2. Parietal - two bones.

3. The occipital.

4. The temporal - two bones.

5. The sphenoid.

6. The ethmoid.

And the bones of the face are fourteen, and they are:

1. Nasal - two bones.

2. Maxillae - two bones.

3. Lacrimal - two bones.

4. Zygomaticus - two bones.

5. Palatine - two bones.

6. Inferior nasal conchae - two.

7. Vomer.

8. Mandible.

Craniofacial surgeries are indicated in patients who are characterized by the following criteria:

• Congenital abnormalities like Apert’s syndrome and Crohn's disease.

• Maxillofacial injuries.

• Tumors and their associated deformities.

How Are People with Genetic Conditions Surgically Managed?

Genetic conditions are crucial conditions as they can compromise life quality and efficacy. In many cases, the babies conceived may lead to potential miscarriages or shuffle sustaining post-birth. Hence, a careful need for treatment along with supportive care is initiated in patients. As the surgical procedures in genetically compromised individuals do not necessarily treat or correct the underlying cause, it is well capable of curing the potential defect that has resulted; in some cases, gene therapy has also proven to be highly beneficial. The treatment modality in treating such patients is often an amalgamation of various treatment approaches that include bone marrow transplantation, gene therapy, targeted medicine, and palliative care.

How Are People with Genetic Conditions Surgically Managed?

Surgical intervention for curing an existing condition has proven to give a positive outcome and restore form and function. Hence, these procedures are carried out for a very long time to fix the facial and cranial defects occurring due to genetic discrepancies. Some of the surgical procedures used in treating patients with craniofacial anomalies are:

• Craniotomy: Craniotomy is a surgical procedure that is performed by removing a part of the skull to visualize the brain. Here, the piece of bone from the cranium is removed using specialized instruments. Before performing this surgical process, diagnostic procedures like magnetic resonance imaging (MRI), computerized tomography (CT), etc., are done, and an exact location to open the skull is determined. Craniotomy, as a surgical procedure, is used for treating skull repairing procedures or for modifying the skull, for removing tumors or clots of the brain, or for repairing any fracture of the skull or any bulge of the blood vessels supplying the brain.

• Cranioplasty: Cranioplasty surgery is used to correct skull defects and to remodel it using biological or non-biological materials such as metal or fiber plates (for example, titanium, synthetic bone materials, or solidified biomaterials) that are used to protect the skull. These operations also allow the surgeon to predict the result of the surgery so that the precise conclusion may be communicated to the patient.

Conclusion:

Although the occurrence of craniofacial deformity due to a genetic condition is uneventful, the development in science and technology has led to a reversion of the defects occurring, reestablishing and recompensating the physiological and functional defects. Craniofacial surgeries, in most cases, also provide a revamped confidence in people, bringing a happy smile after successful outcomes and relieving the patient from the mental and physical trauma and stress they endured. Although the surgeries do take time to heal and require a well-provided follow-up and post-operative care, when done at the right time, these surgeries truly compensated for the time and features that were lost for a while