Crouzon Syndrome: Symptoms, Causes, Treatment

He Crouzon's syndrome Is a cranio-facial malformation resulting from an abnormal closure or development of cranial sutures and, as a consequence, Produces various abnormalities in the face and skull (Schneider et al., 2011).

It is a pathology of congenital origin linked to the presence of a partial or complete mutation of the FGFR2 gene, related to the factor of growth of Fibroblast (FGFR) (Seattle Children's Hospital, 2016).

Crouzon syndrome

At the clinical level, Crouzon syndrome is characterized by the presence of a bulging or bulging of the frontal part of the skull, shortening of the Total head volume, maxillary hypoplasia or normal development of ocular basins, among other aspects (Boston Children's Hospital, 2016).

As for diagnosis, clinical signs are generally not clearly visible at birth. Typically, the characteristics Physiques have to manifest themselves at approximately two years of age. Thus, the diagnosis is confirmed on the basis of a detailed physical examination and a Genetic study (Orphanet, 2013).

Although there is no cure for Crouzon syndrome, there is a wide variety of therapeutic approaches that can improve Significant medical complications derived from this pathology.

In all cases, the treatment of choice is based on the work of a team Multidisciplinary: dentistry, neurosurgery, ophthalmology, traumatology, physiotherapy, speech therapy, Neuropsychology , etc. (Association of Anomalies and Dentofacial Malformations, 2012).

Characteristics of Crouzon's syndrome

Crouzon Syndrome: Symptoms, Causes, Treatment Girl with Crouzon syndrome.

Specifically, this pathology was first described in 1912, by the French surgeon, Octavie Crouzon (Beltran, Rosas and Jorges, X).

Already in the first clinical cases described in the medical and experimental literature, it was possible to find an explicit association of signs Craniofacial to an abnormal formation of the cranial sutures (Beltrán, Rosas and Jorges, X).

The most current statements of this pathology, define it as a genetic disorder resulting from a Craniosynostosis Or early closing of bones Make up the skull (Genetics Home Reference, 2016).

The configuration of the skull during the infantile stage or of development, presents / displays an oval structure, being wider by the posterior zone. Thus, the Bone pieces (occipital, temporal, parietal and frontal) are usually formed about the fifth month of gestation and are joined together by a tissue Connective or fibrous, cranial sutures (Villarreal Reyna, 2016).

The cranial sutures, therefore, allow the growth of the head and brain volume, thanks to its flexibility. In addition, its closure begins Develop progressively between 9 and 24 months (Villareal Reyna, 2016).

When there is an alteration of this process, such as craniosynthesis, there is an anticipated closure of these fibrous structures (Villareal Reyna, 2016).

In this way, this event prevents that the structure that conforms the skull, the face and the brain, are formed with normality. As a consequence, the person Affected will develop multiple malformations that affect the eyes, jaw position, nose shape, teeth, or Formation of the lips and the palate (Genetics Home Reference, 2016).

Although the majority of individuals with Crouzon syndrome present normal or expected indigence for their age group, the usual development Of the brain may be slowed down and, as a result, various learning difficulties may occur which, together with dental and maxillary abnormalities, Slow down language acquisition significantly (Genetics Home Reference, 2016).

In addition to the more commonly used term, Crouzon's syndrome, this pathology may also appear to be referenced with other types of denominations: craniostenosis Crouzon type, craniofacial dysostosis, and Crouzon craniofacial dysostosis (National Organization for Rare Disorders, 2007).

About us

Crouzon Syndrome: Symptoms, Causes, Treatment 1

The frequency of Crouzon syndrome has been estimated at approximately 16 cases per million newborns worldwide (Genetics Home Reference, 2016).

More specifically, Seattle Chindre's Hospital (2016) notes that Crouzon syndrome is a pathology that can occur in 1.6% of people Every 100,000.

In addition, it is one of the most frequent pathologies derived from craniosynostosis. Approximately 4.5% of people who have suffered Craniosynostosis suffer from Crouzon Syndrome (Seattle Children's Hospital, 2016).

On the other hand, in terms of prevalence by difference by sex, no statistical data have been found indicating a significant increase in the number Of cases in any of them. In addition, the occurrence of Crouzon syndrome has not been associated with specific geographic regions or ethnic groups Individuals.

Signs and symptoms

Crouzon Syndrome: Symptoms, Causes, Treatment 2

The clinical features and typical medical complications of Crouzon syndrome can vary significantly among individuals Affected. However, the cardinal finding in all is the presence of craniosynostosis.

Craniosynostosis

Authors such as Sanahuja et al. (2012), define craniosynostosis as a pathological event that results in the early fusion of one or several sutures Cranial.

In this way, the development of the skull deforms growing in a direction parallel to the affected areas, that is, growth slows down in the sutures Fused and continuously progressive in the open (Sanahuja et al., 2012).

In Crouzon syndrome, closure of the cranial bony plaques takes place 2 to 3 years before birth, however, in other cases it may Be evident at the time of birth (Seattle Children's Hospital, 2016).

In addition, the degree of involvement may be variable, depending on the areas or sutures affected by the fusion.

In the most severe cases, it is possible to observe a fusion of the sutures of the bony parts that form the front and the upper sides of the skull, is Say, the coronal and sagittal sutures, on the one hand, and the parietal sutures on the other. In addition, in other cases, it is also possible to detect a suture of The later bone structures (National Organization for Rare Disorders, 2007).

Thus, craniosynostosis is the etiological event that gives rise to the other symptoms and medical complications of Crouzon syndrome (National Organization for Rare Disorders, 2007).

Cranial Malformations

The fusion of the cranial sutures can give rise to a wide pattern of anomalies and cranial malformations, among the most common are:

- Brachycephaly: It is possible to observe an alteration of the structure of the head, being shown with a reduced length, increase of the Width and flattening of the posterior and occipital areas.

- Escafocephaly: In other cases, we will observe a head with an elongated and narrow form. The more frontal areas grow forward and While in the occipital areas it is possible to observe a wavy or peak shape.

- Trigonocephaly: In this case, the head shows a deformity in the form of a triangle, with a significant bulge of the forehead and A position close to both eyes.

- Skull or clover or Craniosynostosis type Keeblattschadel: This alteration, constitutes a specific syndrome, in which the head acquires A form of clover. Specifically, bilateral prominence of the temporal and upper head areas may be observed.

Eye disorders

The ophthalmologic area is one of the most affected in Crouzon syndrome, some of the most common pathologies may include:

- Proptosis: The bone structure of the ocular basins, develop with little depth and, consequently, the eyeballs Have an advanced position, ie they appear to protrude from these cavities.

- Exposure keratitis: The abnormal position of the eyeballs, results in a greater exposure of their structures, therefore, it is Frequent the development of a significant inflammation of those ocular structures located in the most forward areas.

- Conjunctivitis: As in the previous case, the exposure of the ocular structures, can cause the development of Infections, such as conjunctivitis, which causes inflammation of the connective tissues.

- Ocular hypertelorism: In some individuals, it is possible to observe a significant increase in the distance between them Eyes.

- Divergent strabismus or exotropia: In this case, it is possible to observe an absence of symmetry or parallelism between both eyes, that is to say, When one or both eyes deviate towards the lateral areas.

- Optic atrophy : Also the development of a progressive degeneration of the nervous terminals that take care of Transmit visual information from the eye areas to the brain.

- Nystagmus: Some individuals persistently present involuntary eye movements, with an arrhythmic presentation and Fast.

- Waterfalls: In this case, the lens of the eye becomes opaque and, therefore, makes it difficult for light to pass through the prosecution. Affected individuals will experience a significant impairment of their visual ability.

- Coloboma of the iris: A partial or total absence of the iris, ie the color area of ​​the eye, may appear.

- Visual disability: A good part of the affected people, presents a significant deterioration of the visual capacity, in many cases, It can present itself in the form of blindness with variable gravity.

Facial Malformations

- Frontal bulge: One of the most characteristic features of Crouzon's syndrome, is the presence of a bulging or prominent. The frontal bone structure tends to grow abnormally forward.

- Nasal malformation: In some cases, it is possible to observe a nose in the form of a"parrot beak", that is, with the nasal tip dropped or down.

- Hypoplasia of the middle facial third: In this case, a partial or slower development of the central areas of the face occurs.

Oral and Maxillofacial Malformations

- Maxillary hypoplasia: In most of the individuals, will present a small or underdeveloped upper jaw.

- Mandibular prognathism: This pathology is characterized by a prominence or tendency to leave the lower jaw, that is, it is situated In a position ahead of the top.

- Cleft Palate: In some cases, it is possible to observe an incomplete closure of the ceiling of the palate, the even of the structure lip.

- Dental malocclusion: The misalignment of the dental pieces or the alteration of the position of the bite, constitutes one of the Most frequent maxillary and buccal findings.

Neurological and neuropsychological disorders

Cranial malformations can impede the normal and exponential growth of brain structures and, therefore, lead to the presence Variable of various anomalies such as:

- Headache And recurrent headache.

- Convulsive episodes.

- Mental retardation .

- Hydrocephalus Progressive

- Increased intracranial pressure.

Causes

The genetic origin of Crouzon Syndrome is associated with a specific mutation of the FGFR2 gene (Genetics Home Reference, 2016).

Specifically, this gene has the essential function of providing the necessary instructions for the development of the factor of Fibroblast growth.

Among other things, they are responsible for signaling to immature cells their conversion or differentiation into bone cells, during the development stage Embryos (Genetics Home Reference, 2016).

In the case of Crouzon syndrome, specialists propose an increase or overestimation of signaling by the FGFR2 protein and Consequently, the bones of the skull have to fuse prematurely (Genetics Home Reference, 2016).

Although the main mutation has been identified in the FGFR2 gene located on chromosome 10, some clinical reports have associated the course Of this pathology to a mutation of the FGFR3 gene on chromosome 4 (The Craniofacial Association, 2016).

Diagnosis

As we have noted, most affected people begin to develop obvious physical traits during the infantile stage, usually from 2 years old. There are few cases in which the most characteristic signs and symptoms are observable directly at the time of birth (Seattle Children's Hospital, 2016).

Generally, the initial step of Crouzons syndrome is based primarily on the identification of cranio-facial clinical features. In addition, for Confirm certain features or bone abnormalities, various laboratory tests may be used: traditional radiographs, Axial tomography Computerized, skin biopsy, etc. (Seattle Children's Hospital, 2016).

In addition, genetic studies are essential for determining the presence of genetic mutations and identifying a possible hereditary pattern (Seattle Children's Hospital, 2016).

Treatment

At present, experimental studies have failed to identify any type of therapy that will stop cranial fusion. Therefore, interventions Are fundamentally oriented to symptomatic management and control.

The teams that are in charge of the treatment of this pathology, are usually formed by specialists of diverse areas: surgery, pediatrics, physiotherapy, Speech therapy, psychology, neuropsychology, etc.

Thanks to current advances, in surgical procedures and tools, many of the craniofacial malformations are correctable with a High percentage of success.

References

  1. AAMADE. (2012). Crouzon syndrome. Obtained from Association of Dentofacial Anomalies and Malformations.
  2. Aguado, A., Lobo-Rodríguez, B., Blanco-Menéndez, R., Álvarez-Carriles, J., & Vera de la Puente, E. (1999). Neuropsychological implications of the syndrome
    Of Crouzon: case study. . Rev Neurol, 1040-1044.
  3. Beltrán, R., Rosas, N., & Jorges, I. (2016). Crouzon syndrome. Revista Neurologia.
  4. Boston Children's Hospital. (2016). Crouzon Syndrome in Children. Retrieved from Boston Children's Hospital.
  5. Children's craniofacial association. (2016). Guide for Crohn's syndrome endenter. Children's craniofacial association.
  6. NIH. (2016). Crouzon syndrome. Retrieved from the Genetics Home Reference.
  7. NORD. (2016). Crouzon Syndrome. Retrieved from the National Organization for Rare Disorders.
  8. Orphanet. (2013). Crouzon disease. Obtained from Orphanet.
  9. Seattle Children's Hospital. (2016). Symptoms of Crouzon Syndrome. Retrieved from Seattle Children's Hospital.
  10. Schneider, E., Gómez Ocampo, E., Rios Gómez Ocampo, D., Jorge Vázquez, D., Brites Samaniego, M., & Carbajal, E. (2011). Crouzon syndrome.
    Radiographic diagnosis and orthognathic treatment of a clinical case. . Rev ADM, 188-191.
  11. Vidal Sanahuja, R., Gean Molins, E., Sánchez Garré, C., Quilis Esquerra, J., García Fructuoso, G., & Costa Clara, J. (2012). Crouzon's Syndrome: a Purpose of 2 cases. Allelic craniostenotic entities of the FGFR genes. An Pedratr (Bar), 272-278.


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