Craniosynostose

The craniosynostoses are pathologies in connection with a premature welding of one or more cranial joinings. This pathology begins during the fetal life.

Other names of the disease

  • Craniosténoses

Incidence

  • 1 out of 2000 births.

Types of craniosynostose

Primary Craniosynostose

  • Represents the very large majority of the cranyosynostoses
  • Due to a defect of ossification without another anomaly, the growth of cranium involves a deformation parallel with the implied joining.

Secondary Craniosynostose

  • Due to a stop of the growth of the brain, the patient presents a microcephalus with often a backwardness. These craniosynostoses is often also seen in the severe metabolic diseases.

Syndromic Craniosynostose

  • Représente 15% of the cranyosynostoses
  • the craniosynostose is associated with other anomalies of the body. There exists more than 150 syndromes comprising a cranyosynostose.

Cranyosynostoses by change of genes FGFR

  • This group is in connection with the change of gene FGFR. These cranyosynostoses is often associated with anomalies of the feet and hands, gathered under the generic term of acrocéphalosyndactylie . All are diseases with dominant autosomic transmission.
Syndrome of Pfeiffer: Change of gene FGFR1 and FGFR2
  • Syndrome of Jackson-Weiss Change of gene FGFR2
  • Syndrome of Appert Change of gene FGFR2
  • Syndrome of Beare-Stevenson Change of gene FGFR2
  • Syndrome of Crouzon Change of gene FGFR2
  • Syndrome of Crouzon with acanthosis nigricans Change of gene FGFR3
  • Syndrome of Muenke Change of gene FGFR3

    Cranyosynostoses by change of other genes

    By change of standard gene MSX2
    • Cranyosynostose Boston
    By change of the gene TWIST

    Others syndromic cranyosynostoses

    • Syndrome of Antley-Bixler
    • Syndrome To ball-Gerold
    • Syndrome of nasal Adhesive-Carpenter
    • Dysplasie cranio fronto
    • Syndrome of Opitz
    • standard Cranyosynostose Philadelphia
    • Syndrome of Shprintzen-Golberg

    Assumption of responsibility

    The assumption of responsibility of this pathology must be made in centers specialized in the treatment of the cranyosynostoses.

    Principle of treatment of the principal anomalies craniofaciales

    The visible scars are avoided to the maximum. The principal access of the skeleton craniofacial will be carried out through the hair. The hair is not shaven. A long incision is made from one ear to another, enough far behind, in zigzag on the temples. One thus obtains a good access to the zones to be corrected and the final scar is practically invisible.

    An additional opening is carried out rather often on the level of the eyelids, without any scar if the incision is made inside, or with an almost invisible scar under the lashes. Sometimes an opening is also made inside the mouth, through the mucous membrane of the upper lip.

    In some cases of important malformations of the nose, an incision on the nasal edge to remove a surplus of skin or to correct a deformation, is necessary. Very exceptionally, an incision on the face, eyelids, or the cheeks can be also necessary.

    Craniosténoses - Frontocranien Replanning

    The deformed cranium will be corrected by depositing the abnormal parts and while positioning them back after correction, precisely fixed in good position. A different technique is used for each type of craniosténoses

    Principal types of craniosténoses

    • 1. Brachycephaly (moved back and vertical face).

    An advance of the upper part of the orbits is carried out, and the face is repositioned above. Early correction of a brachycephaly: face and orbital stringcourse are deposited and advanced of 20 Misters fixings are made on the level of the facial solid mass and the face.
    • 2. Oxycéphalie (behind rocked face and top of pointed cranium).
    It is usually about a late deformation, appearing between 3 and 5 years. The correction is obtained by the rocker and the advance of the upper part of the orbits and the frontal correction.
    • 3. Plagiocephaly (asymmetry of the face, the orbits, the nose).
    A bilateral correction is carried out, by advancing the moved back side and by rebuilding a face - in a part - in normal position.
    • 4. Scaphocéphalie (transverse contracting and elongation).
    During the first months of life, a simple intervention of widening of the sténosée central part of cranium is sufficient. Later, and in some severe forms, a frontal and posterior replanning must also be carried out.
    • 5. Trigonocéphalie (triangular face with a median peak).
    The face is corrected by rectifying the higher edge of the orbits and by recontruisant a flat face.

    Advance of the Face

    • Generally it acts to advance all the average part of the face, the nose, the knobs, and the teeth higher. One carries out an osteotomy known as " Fort III ".

    • Sometimes, one carries out a " Fort II " who leaves in place the nose when this one is in good position.

    • a " Fort I " advances only the teeth and the upper maxilla. It is carried out only by the interior of the mouth.

    • a " monobloc " advances at the same time the face and the face.

    • a progressive distraction is used in certain cases to gradually place the bones released in good position.

    Correction of Hypertélorisme - Bringing together and Displacement of the Orbits

    It is a question of bringing closer the orbits - and the eyes - by réséquant the widened median part of the nose.

    The orbits are released by a circonférencielle osteotomy.

    Sometimes, one will carry out a " bipartition " with an incision between the incisors, which will make it possible to draw aside the higher dental arch and the nasal cavities at the same time as one brings closer the orbits.

    An excision of the base of the nose which has an excessive width is initially practiced. The two hémi-faces are brought closer, which increases the higher dental arch.

    When the articulated dental one is normal and that the orbits have a normal contour, a horizontal mobilization of the orbital executives, after median résection, can be then the best solution. A horizontal osseous incision is then made under the orbit, with the top of the dental germs which are preserved.

    Sometimes, it is possible to mobilize only the lower ¾ orbits, thus avoiding an intracranial access.

    Orbital asymmetry, Orbital Dystopie

    According to the cases, one will mobilize only one orbit to bring it at the wanted level, or, the two orbits simultaneously if a hypertelorism is associated.

    See too

    Deficit in cytochrome P 450 oxydoréductase

    Sources

    • Site in French of information on the orphan rare diseases and drugs
    • Site in English Impossible to circumvent for the genetic diseases
    • clinical Description Site in English
    • Site in French of information on the diseases dependant on the craniosynostose and possible surgical operations in certain cases
    • Site in English presenting the course and of the photographs of an American child reached of a craniosténose of the plagiocephaly type before and after the operation and its evolution so far

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