Craniofacial Deformities

Craniofacial deformities affect the development of the bones and soft tissues of the face, impacting both appearance and function.
With modern treatment approaches, we aim to restore natural balance and improve the quality of life for our patients.

Craniosynostosis

Illustration

Craniosynostosis is the early fusion of two or more bones of the skull

An infant's skull is made up of bones that have not yet fused together but are held in place by flexible joints called cranial sutures. During the early stages of life, the brain grows rapidly. To accommodate this growth, the cranial bones shift and expand, allowing the skull to develop normally. Once brain growth slows down, the sutures lose their functional role and gradually close, allowing the bones to fuse.

Premature fusion of these sutures, known as craniosynostosis, disrupts the normal development of the skull and brain. This condition can lead to changes in the natural shape of the head, functional complications, and developmental challenges for the child. If even one suture closes too early, the skull cannot grow normally in that area. As a result, the remaining open sutures may overcompensate, causing the skull to develop in an abnormal shape in order to protect brain growth.

Illustration
  • Diagnosis

    Craniosynostosis may be evident at birth or it might be observed later. It is diagnosed by physical examination, usually in combination with diagnostic imaging. During the examination a complete medical history is taken and the necessary measurements are made.

  • Surgical recovery

    Each patient is individually evaluated based on the following parameters:
    ● Age● Health Status and body weight● Type and extent of craniosynostosis
    Therefore the plan of each case is completely personalised based on the specific needs of the child. Usually treatment is possible only with surgery. The aim is to correct the shape of the head so as to allow the normal development of the brain and the shape of the skull and the reduction of intracranial pressure if there is any.
    Nowadays specialized surgical cranioplasty surgeries are specifically performed to restore the skull and facial skeleton deformities. These surgical interventions, are performed as a general rule during the first months of life so as the fetal benefits by the increased capacity on the tissue (the periosteum and crestal dura) to form the bone after surgery.
    The cranioplasty procedures must be carried out by specialized ΤΕΑΜ in Craniofacial Centers by scientists and doctors with training extensive experience in this type of patients.

  • Problems

    1. Brain pressure phenomena.In the area of craniosynostosis the brain is pressed from lack of space created and thus this area cannot be supplied by adequate blood. The consequence of this may be the incomplete creation of synapses between nerve cells that are necessary for the normal development of the nervous system. 
    2. Intracranial hypertensionThe pressure exerted on the brain from the overlying deformity of the skull may cause increased intracranial pressure, namely generalized intracranial hypertension, or practiced locally only in part of the brain located below the deformed bone. This problem is more frequent than previously thought and the higher rates we observe are in premature closure of the sagittal suture (scaphocephaly). 
    3. Progressive premature closure of other suturesEarly closure of coronal suture has been observed after surgical correction of scaphocephaly. This problem prevents the simultaneous removal of coronary artery suture in the correction of scaphocephaly. 
    4. Ophthalmological problemsFrom non syndromic craniosynostosis, the frontal plagiocephaly is accompanied very often by ophthalmological problems. the most common of which are: ● Strabismus, ie the eyes do not see one image, but two, consistently one image to be thwarted causing amblyopia in one eye. The eye that suffers is usually from the healthy side and not from the side of the lesion. This problem is completely curable if diagnosed in time, and is almost exclusively observed in the frontal plagiocephaly.● Swelling of the optic papilla is a sign of intracranial hypertension.It is clear, therefore, how necessary is the regular eye examination of children with early synostosis of cranial sutures.
     5. Cognitive and learning disordersThey are observed in increased frequency in children with non syndromic craniosynostosis and they occur during preschool age. It has not been clarified whether they are caused by craniosynostosis or if simply they are due to the same gene that causes them. An evaluation is recommended by a pediatrician once a year from the age of two and thereafter so that if this problem is suspected an early therapeutic intervention is scheduled.

  • Prognosis

    Prognosis of non syndromic craniosynostosis is generally good if the appropriate intervention is performed in time and the child continues to be monitored regularly by the craniofacial team. Children are expected to live normal lives without restrictions, with distribution identical to that of the general population.

Illustration

Plagiocephaly

Illustration

Plagiocephaly is a term used for the description of the asymmetric formation of the skull and is divided into two categories: forehead plagiocephaly and occipital plagiocephaly.

Illustration
Illustration
  •  Frontal Plagiocephaly

    The term frontal plagiocephaly describes the creep and the asymmetry of the forehead due to premature closure (early synostosis) of the left or the right side of the coronary suture.

    The characteristics are as follow:

    ● On the side of the problem the forehead is wide (flat) or even hollow.
    ● The base of the nose is drawn to the affected side.● The ocular orbit rises relatively to the orbit of the opposite side.● The eyebrow is usually at a higher position.● The ear also moves more to the front.

    On the opposite side the forehead rises more, a phenomenon caused by the pressure that is exerted by the brain in an effort to ensure the necessary space for its development.

    Diagnosis is necessary to be done during the first months of infancy, because confronting frontal synosteotic plagiocephaly synostosis is always surgical and ideally should be done by the sixth to the twelfth month, in order to ensure the best possible benefits.

    The deformity that is considered of minor importance by many parents, is actually developing into a serious problem, because as time passes it deteriorates and at an older age the surgical correction is considerably harder.

    The treatment of frontal plagiocephaly is performed by a surgical TEAM specialising in craniofacial problems. In this case the craniofacial plastic surgeon collaborates with the neurosurgeon.

Illustration
Illustration
  • Occipital plagiocephaly

    Occipital plagiocephaly is the creep and the asymmetry of the posterior part of the head (parietal part). Most cases of occipital plagiocephaly are due to the external pressure on the skull (endometrial or after birth), while a small percentage is due to premature closure (synostosis) of the lambdoid suture. The treatment of occipital plagiocephaly from premature synostosis of lambdoid suture is surgery.

Illustration

Trigonocephaly

Illustration

Trigonocephaly is caused by premature synostosis of the metopic suture (which is a suture in the middle of the frontal bone) where the forehead develops in a way that is triangular.

Illustration
Illustration

Scaphocephaly

Illustration

Scaphocephaly is caused by premature synostosis of the sagittal suture. The suture is directed from front to back on the top of the skull and when closed prematurely is usually palpable while visually a clearly stretched head is observed. In some cases where there is premature synostiosis only the back part of the sagittal suture, varies somewhat. The forehead is large and dome-shaped, while the vault of the skull shows incline from front and back up and down.

Illustration
Illustration

Positional Plagiocephaly

Illustration

Occipital plagiocephaly is characterised by asymmetry and widening of the posterior portion of the head (parieto-occipital area).
Positional Plagiocephaly (PP) refers to the cause of the plagiocephaly, which is the external (pre-or postnatal) pressure on the bones of the skull.

This means that is attributed to mechanical causes such as:● Deformation of the skull in the matrix (with a high frequency in twin pregnancies).● Overstaying of the newborn’s head in one position.

Illustration
  • Treatment

    The treatment of positional plagiocephaly, except in the most severe forms, is conservative and consists of:
    ● Frequent change of head position.● Positioning of the head in a specially designed concave foam pillow.● Physiotherapy by an experienced Physiotherapist.
    In the severe forms of plagiocephaly, the solution is surgery in where cranioplasty is perfomed on the rear section of the head. During the surgery the aesthetic problem of the patient is improved and simultaneously the local brain decompression is ensured which is pressed by the parietal bone.
    Once the diagnosis of occipital plagiocephaly is made, parents should visit:
    An expert physiotherapist who will examine and assess the baby for muscle spasm, will indicate to parents the appropriate exercises, and will take active participation in carrying out of the treatment of neonate (or baby). The physiotherapist of the MEDICLEFT TEAM, Melios Athanasiades, is at your disposal.● Specialist paediatric-ophthalmologist, in order to exclude the possibility of the existence of strabismus.
    Treatment should start early, i.e. ideally during the second or third month of life because the conservative treatment in older age is less effective.
    It must be emphasized that the occipital positional plagiocephaly not only affects the head and neck, but may affect the muscular balance in ohmic zone. This problem can be prevented with early physical therapy intervention.
    Attention!
    ● The skull is highly “ductile” until the 4th week of life.
    ● Efforts should be made to restore any deformation caused in the process of child’s birth as soon as possible.
    ● If you locate any widen points to the occipital or parietal bones, talk with your pediatrician or call our TEAM at +357 25735050.
    ● If you notice asymmetries in the active and/or passive trajectory motion of the head request physical therapy evaluation. The MEDICLEFT TEAM’s physiotherapist, Melios Athanasiadis, is at your disposal.
    ● If abnormal shape persists after the 6th week, ask for referral to a Craniofacial TEAM.

Crouzon syndrome

Illustration

Crouzon Syndrome is characterised by multiple early synostosis of the sutures of the skull and face that derives its characteristic appearance.

Illustration
  • Origin and Frequency

    Crouzon syndrome is caused by multiple mutations in the FGFR 2 gene, which can be inherited from parents or are new mutations. The incidence of this syndrome is approximately 1:60,000 births.

  • Characteristics

    ● Brachycephaly (short anteroposterior dimension of the head)● Facial hypoplasia● Exophthalmos that could lead, in severe cases, the eyelids not to close● Increased distance between the eyes (hypertelorism) usually in a non-serious degree.● The clinical picture varies from lighter form (which can elude diagnosis) to serious, incompatible with life.

  • Mental development

    In most cases individuals with Crouzon syndrome have normal intellectual development.

  • Functional Problems

    ● Increased intracranial pressure due to the reduced capacity of the skull. It’s a common problem and can appear at any time with serious consequences.
    ● Decrease or loss of vision which is usually caused by increased intracranial pressure.
    ● Eye irritation due to weakness in the closure of the eyelids. It can create permanent corneal damage.
    ● Respiratory difficulty, especially during sleep obstructive sleep apnea). In severe form is incompatible with life. Even in the most mild forms it causes significant problems (disturbed sleep, sleepiness during the day, inability to concentrate).

  • Diagnosis

    It is diagnosed by physical examination and confirmed by gene identification. Gene identification is a lengthy process and becomes positive only about half of all cases, but that doesn’t matter because the confrontation of problems becomes the basis of the findings of physical examination.

  • Examination of a baby with Crouzon syndrome

    Immediately after birth, clinical exam must be made for:
    ● Respiratory function. If there is difficulty in breathing which continues after the initial support in the intensive care unit, possibly a tracheostomy is required.
    ● Closure ability of the eyelids.If the baby cannot close his/her eyelids due to exophthalmos, a temporary tarsorrhaphy may be needed (the upper with the lower eyelid ) in order to protect the cornea until the permanent settlement of the problem.
    ● Intracranial pressure. It is rarely needed to take immediate measures to correct it. The cases in which urgent surgery is needed are extremely serious and almost incompatible with life.

  • Surgical repair

    Because there is almost always a limitation of the capacity of the skull and the brain undergoes pressure, in infancy this pressure must be relieved with expansion (growth) of the cranial cavity. Usually the initial surgery is performed in the back area of the skull in parietal and occipital area (Parietal Decompression). A few months later (if necessary) decompression in anterior part of the skull follows (fronto-orbital advancement). In this intervention the area of ocular conches is formed and exophthalmos is somewhat reduced. Finally, at the age of 10-12 years complete and permanent correction of the deformity and the functional problems are achieved by transferring the anterior part of the skull and face forward with Distraction Osteogenesis (fronto–orbital advancement). This operation can be done at an earlier age, if necessary, due to functional problems that require immediate solution (obstructive apnea, increased intracranial pressure causing decreased vision).

Apert Syndrome

Illustration

Apert syndrome is one of the most serious syndromes and occurs with a frequency of 1-65,000 to 1-88,000 births. It is characterised by early synostosis among the bones of the skull but also the bones of the skull and the face. This synostosis causes the characteristic appearance of this syndrome.

  • Clinical Image

    Children with Apert syndrome have a characteristic appearance:
    ● The skull shows decreased anteroposterior diameter (brachycephaly). The Calvaria often presents bone deficits.● The face is wider. The eye sockets are shallow and somewhat distant from each other (wide face – hypertelorism).● The development of the middle third of the face falls significantly and this is a cause of serious respiratory obstruction (obstructive sleep apnea).● The nose has a characteristic rounded appearance in the beak.● Dental problems with overcrowding and disorderly arrangement of teeth.● The palate is vaulted and quite often there is a cleft.● Hands and feet present faulty operation, with abnormalities in the development of multiple joints leading to malfunction, as well as serious degree of syndactyly among fingers and toes.

    Another problem in Apert syndrome is the constant deterioration of the clinical image which is observed with the progress of growth.

  • Origin

    Apert syndrome is caused by two mutations in the FGFR2 gene of chromosome 10. These mutations can be detected in most cases and cause disturbance of the bone and cartilage structure. Mutations can be inherited by parents or can be created without any family history. Most cases are due to new mutations.

  • Functional problems

    From the functional problems the most serious are:
    ● Obstructive apnea, especially during sleep.● Increased intracranial pressure, which may be presented at any stage and age (see chapter). Increased intracranial pressure can be generalised (and more easily detected) or there might be only topical pressure on the frontal lobes due brachycephaly.● Eye problems which often lead to a decrease in vision.● Mental retardation occurs in all children with Apert syndrome, but the severity varies.● Oily skin and acne.● Frequent episodes of otitis.
    Less emphasis has been attributed in the past to abnormalities of the respiratory system. Apart from the narrowness of the throat there may be significant problems in the larynx, the trachea and the bronchi, which can lead to serious respiratory problems.
    Finally, characteristic of Apert syndrome is megalocephaly, which occurs in some cases, i.e. the size of the brain is greater than normal.

  • Surgical Restoration

    Surgeries for the treatment of Apert syndrome usually begin from infancy.

    Depending on the findings one may need:
    ● Opening in the posterior part of the skull (occipital parietal area) in order to give more space to the brain when there is local pressure points.● Opening and relocation of anterior skull squadron i.e. the area of the eyes and the forehead in order to fully decompress each anterior brain lobes and improve exophthalmos.

    At the age of about ten years a bigger surgery is usually needed, the so-called monobloc advancement technique, which is the separation of the anterior part of the skull from the middle third of the face and moving it forward. This surgery aims to correct the short skull and face, but also relieves obstructive apnea, which always exist to some degree. It is possible for this surgery to be done in infancy, on an urgent basis if obstructive apnea is severe and cannot be treated differently.

    Simultaneously with the starting of the craniofacial recovery, in the Apert syndrome, the treatment of the hands should start so that the child’s hands become functional. This is done by special hand surgeons. Usually the initial surgeries consist in freeing the thumb and gradually the remaining fingers.