The whole body is the result of interactions taking place in the human body.
As early as the embryonic stage, the traits of the future child develop and the genes express their character and are influenced by the environment.
To be sure that the future child is healthy, especially in families where the risk of developing abnormalities is present, genetic testing can be carried out.
Through these types of tests, DNA samples obtained from blood, bone, hair or other tissue samples are examined and the risk of developing abnormalities can be detected.
This looks at the number of genes, arrangement and characteristics of chromosomes.
Genetic testing should be a routine examination especially if there are concerns of an increased risk of a particular disease that has genetic clustering.
The information obtained from these tests is useful in making important decisions about the course of pregnancy.
Crouzon syndrome is the condition in which the contour of the face is deformed by exaggerated approximation of the bones.
Most commonly, the jawbone shows the greatest degree of damage. The hereditary route is mentioned as the mode of onset of this syndrome.
Crouzon syndrome can also occur as an isolated case without familial aggregation.
It is perceived as a developmental defect in the first branchial arch, from which the facial bones derive.
Both parents may transmit this syndrome which can affect both sexes equally.
The facial bones are closely related to the shape of the dental arches and, overall, to the functioning of the dento-maxillary apparatus.
Any change in the jawbones will have consequences of varying degrees of severity at the dental level.
Manifestations encountered at dental level:
Class a-III occlusion – physiologically, occlusion is class I.
This means that the mandibular teeth are set slightly more medially than their upper counterparts, resulting in a shorter lower arch. This small gap between the arches starts with the habit of sucking at the mother’s breast.
The mesial aspect of the arches leads to a good functioning of the whole dental apparatus.
On the other hand, in grade III occlusion, the mandibular teeth are highly mesial.
This means that, through the particularly advanced position of the mandible, the lower teeth can circumscribe the upper teeth, leading to a reversed occlusion ratio.
Reduced jaw size – as part of the growth process, the facial maxillary bones develop in harmony with the child’s age. In Crouzon syndrome, however, the jaw remains underdeveloped, stagnating as part of the growth process. This results in a small jaw.
Small nose – as constituent parts of the facial mass, the nasal bones also remain underdeveloped and the cheekbones flatten.
Other changes occurring in this syndrome are small orbits which are doubled by exophthalmos.
Thus, the final appearance will be of eyes protruding from the sockets.
Unlike the maxillary mass, which remains underdeveloped, the mandible has a normal appearance, consistent with age.
The clinical appearance of Crouzon syndrome is characterized by facial deformity as a result of exaggerated bone approximation. The condition mainly affects the jawbone, which shows the greatest degree of damage. Crouzon syndrome may be genetically inherited or may occur as an isolated case without a familial cluster. Both sexes can be affected by this disease.
The bones of the face are closely linked to the shape of the dental arches and the functioning of the dento-maxillary apparatus. Any change in the jaw bones can have varying consequences in terms of dental condition.
Dental manifestations seen in Crouzon syndrome include:
Class III occlusion: Normally, the occlusion is Class I, meaning that the mandibular teeth are slightly more medially set compared to the upper teeth, resulting in a shorter lower arch. This small gap between the arches starts with the habit of sucking at the mother’s breast. The medial aspect of the arches leads to a good functioning of the whole dental apparatus. In Class III occlusion, the mandibular teeth are more medialized than the upper teeth. By the particularly advanced position of the mandible, the lower teeth can encase the upper teeth, resulting in an inverted occlusion ratio.
Small jaw: During the growth process, the bones of the face develop in harmony with the child’s age. In Crouzon syndrome, the jaw remains underdeveloped and does not grow properly. This results in a small jaw size.
Small nose: The nasal bones also remain underdeveloped in Crouzon syndrome and the cheekbones flatten.
Reduced-size orbits and exophthalmos: The orbits are small in size and are doubled by exophthalmos, which means that the eyes are pulled out of their sockets.
In contrast to the underdeveloped jaw, the mandible has a normal appearance consistent with age.
It is important to note that these dental manifestations may vary in their degree of severity in each patient with Crouzon syndrome. Early diagnosis and appropriate treatment, which may involve corrective and orthodontic surgery, can help to correct and improve the clinical appearance of Crouzon syndrome can have a significant impact on the overall functioning of the dental system. For example, Class III occlusion can cause problems with chewing, swallowing and speech. Deformities of the face, such as undersized jaw and nose, can affect facial aesthetics and may involve difficulties in breathing and proper ventilation of the nasal cavities.
Treatment for Crouzon syndrome usually involves a multidisciplinary approach, which may include craniofacial surgery, orthodontics, dentofacial orthopedics and speech therapy. The main goal of treatment is to improve facial function and aesthetics, correct occlusion and improve the patient’s quality of life.
Craniofacial surgery is often necessary to correct bony deformities and restore proper facial alignment. These procedures may involve osteotomies (sectioning of bones) and their repositioning, addition of fillers or soft tissue remodeling.
Surgical corrections may also be required to improve the size of the orbit and to correct exophthalmos.
Orthodontic treatment is designed to correct dental occlusion and ensure the correct alignment of teeth.
It may involve the use of fixed or mobile orthodontic appliances, as well as more complex orthodontic interventions such as maxillary disjunction or surgical orthodontic treatment.
In some cases, speech therapy may be necessary to correct any speech or swallowing problems associated with Crouzon syndrome.
This may involve specific exercises and techniques to improve muscle control and functional coordination of the stomatognathic system.
It is important to understand that treatment for Crouzon syndrome is complex and requires a specialized and experienced medical team to ensure optimal results. Also, long-term monitoring and management of potential complications are essential to ensure the health and well-being of patients with this syndrome.
In conclusion, Crouzon syndrome is a genetic condition characterized by facial deformity and involves a range of dental and craniofacial changes. Understanding the clinical aspect of this syndrome is crucial for early diagnosis and appropriate treatment planning, which aims to improve the quality of life and functioning of affected patients.
A multidisciplinary approach, involving surgery, orthodontics and speech therapy, can help to correct the abnormalities and manage the symptoms associated with Crouzon syndrome.
It is important to provide emotional support and appropriate information to families and patients with Crouzon syndrome to help them understand the nature of the condition and treatment options. Support from the medical community and the involvement of specialists in different fields (craniofacial surgeons, orthodontists, speech therapists, etc.) are also essential to ensure complete and appropriate treatment.
As research advances, it is likely that diagnostic and treatment methods for Crouzon syndrome will improve in the future. Deeper understanding of the genetic basis of this syndrome and the development of gene therapies may offer new insights into the management and treatment of the condition.
Finally, understanding the clinical aspect of Crouzon syndrome is crucial for early diagnosis and appropriate treatment. This should lead to a significant improvement in the quality of life of patients affected by this condition.
