craniofacial

Pierre Robin Sequence

MORPHOLOGICAL FEATURES

The appearance of newborn babies with Pierre Robin sequence is distinctive. They have a small mandible and usually cleft palate (the cleft in these instances usually horseshoe shaped.

FREQUENCY – AETIOLOGY

It is not a relatively frequent abnormality (it occurs once between every 8500- 14000 births) and in some instances it might be a part of other symptoms such as the Treacher Collins, Stickler, (Velo-Cardio-Facial syndrome) (VCFS) syndrome.
The cause factors are not known, but it is considered that the mechanical factors which confine the fetus might be responsible for the small size of the mandible.  In turn, the mandible does not allow the tongue to come down on time, from the high position it holds in the mouth of the fetus, to leave room to the side segments of the palate to develop towards the midline and unite and as a result a cleft of the palate is formed.

HOW IS THE DIAGNOSIS DONE?

The diagnosis is done exclusively with a clinical examination of the newborn baby.

FUNCTIONAL PROBLEMS

The symptoms of the Pierre Robin sequence are mainly:

  • Respiratory distress or obstruction as well
  • Difficulties in the feeding

The respiratory distress may be obvious only when the newborn baby gets tired from the effort it puts into in order to breathe, usually in the supine position (upward-facing position) and its life might be put at risk.  Careful monitoring of the respiratory function is required and of the newborn baby’s sufficient oxygenation.
Due to the small mandible and the respiratory distress a problem in the feeding might occur.
The monitoring of the newborn baby must be constant, especially in the initial stages, because although seemingly the newborn baby might be breathing and be getting enough oxygen, signs of respiratory obstruction might emerge when it gets tired or when it sleeps.

TREATMENT – CONSERVATIVE SUPPORT

The entire effort is focused on the support of the respiratory function. The symptoms are improved in most times within a few days or weeks.
The newborn baby should not be placed and remain in a supine position (upward-facing position) when it is not being monitored.  Usually the placement in a prone position (downward- facing position) sufficiently ensures the respiration. In more severe cases the newborn baby must remain in the intensive care unit, where it can be helped with non-intrusive means, such as with the placement of a small tube that keeps the tongue at the front thus facilitating the respiration. It is highlighted again that in the majority of instances the symptoms improve within days or weeks. For dealing with the problems in feeding, the insertion of a nasal-gastric tube might be required, so that the sufficient acquirement of food is ensured.

SURGICAL TREATMENT

In those instances, when there is no improvement despite the efforts with conventional means for a long period of time, a surgical procedure might be needed.
The pas- procedure Rutledge, which constituted the temporary agglutination of the lower surface of the tongue with the inner surface of the lip (in order to keep the tongue at the front) has almost been abandoned due to its high percentage of failure.
The elongation of the mandible has also been implemented with the distraction osteogenesis. In our opinion this is an exaggeration, as it has been proven that with relatively quick rhythms the development of the mandible will at least partly make up for the lost ground.  Besides, the surgical elongation of the mandible in neonatal ages constitutes severe hardship and does not shy away from being responsible for any complications.
Finally, in rare cases where the life of the newborn baby is threatened and where the conventional treatment has failed, a tracheostomy constitutes the most definite solution for securing an adequate air space.


Muenke Syndrome

MORPHOLOGICAL FEATURES

The clinical image of the Muenke syndrome is usually similar to the image of the craniosynostosis of the coronary suture, unilateral or bilateral. The difference lies in the fact that in the case of the Muenke syndrome there is a clear genial diagnosis and heredity (in contradiction to the non-syndromic forms of the coronal craniosynostosis
Other morphological abnormalities that have been observed in instances of Muenke syndrome are:

  • An arched palate which may predispose serous otitides
  • Cleft of the lip or of the palate as well (rare)

The clinical diagnosis of the syndrome requires clinical experience and a high index of suspicion and it is confirmed by the genial examination.

SURGICAL REHABILITATION

Unless peculiar features exist, the surgical correction is the same as with the correction of the frontal plagiocephaly (see chapter).
It is estimated that 20-25% of the incidents with a diagnosis of the Muenke syndrome the procedure will have to be redone, as the deformity is usually marked and it is difficult for the full correction to be achieved with the initial procedure.


Crouzon Syndrome

The Crouzon Syndrome is characterized by multiple premature synostoses of the cranial and of the facial, which ascribe to it its distinctive appearance.

AETIOLOGY AND FREQUENCY OF THE SYNDROME

The Crouzon Syndrome is caused by multiple mutations in the FGFR 2 gene, which might be inherited by the parents or they might constitute new mutations. The frequency of the syndrome is 1 occurrence in every 60 000 births.

FEATURES OF THE CROUZON SYNDROME

  • Brachycephaly
  • Hypoplasia of the face
  • Exophthalmos (bulging eyes), which might exist to such a severe degree that the eyelids are not able to close.
  • An increased distance between the eyes (Hypertelorism), usually of a minor degree

The clinical image ranges from a very mild form (that might not be diagnosed) to the most severe of forms, one that is incompatible with life.

MENTAL DEVELOPMENT

In most instances, people with Crouzon Syndrome have a normal mental development.

FUNCTIONAL PROBLEMS THAT ACCOMPANY THE CROUZON SYNDROME

  • Increased intracranial tension due to the decreased capacity of the cranium. It is a very frequent problem and it might be presented at any period of time with severe consequences.
  • A decrease or loss of vision, which is usually caused by the increased intracranial tension.
  • Irritation of the eyes due to the weakness in the convergence of the eyelids. Permanent damages of the cornea might be created.
  • Respiratory difficulty, especially during sleep (obstructive night apnea).In a serious form it is incompatible with life. Even in its more mild forms, it causes severe problems (disturbed sleep, drowsiness during the day, focusing weakness).

Diagnosis of the Syndrome
The diagnosis is done by the physical examination and it is confirmed by a gene identification. The gene identification is a time-consuming process and it turns out positive only in half of the instances, but this is of no importance, because the handling of the problems is done based on the findings of the physical examination.

Evaluation of the newborn baby with Crouzon Syndrome
Right after the birth of a child, an assessment must be done of the:

  • Respiratory function. If a difficulty in respiration exists, which continues following an initial support in the Intensive Care Unit, a tracheostomy is likely to be required.
  • The ability of convergence of the eyelids. If the newborn baby cannot close its eyes due to the exophthalmos (bulging eyes), a temporary tarsal suture might be required to be done so that the cornea is protected until the problem is settled more permanently.
  • Intracranial tension. It is rarely required for immediate measures to be taken for its handling.The instances in which an urgent procedure is required are extremely severe and almost incompatible with life.

Surgical rehabilitation of the Crouzon Syndrome
Because a restriction of the capacity of the cranium nearly always exists and the brain undergoes some pressure, this pressure must be relieved with the expansion  (enlargement) of the cranial cavity at infancy.

  • Usually the initial procedure is done on the posterior area of the cranium, namely the parietal and occipital (parietal Decompression).
  • A few months later (if it is required) a decompression of the frontal segment of the cranium follows (Frontal-orbital Propulsion). In this procedure the area of the orbits is also formed and the exophthalmos (bulging eyes) is somewhat reduced.
  • Finally, at the age of 10-12 the complete and permanent correction of the deformity and of the functional problems is achieved by moving the frontal segment of the cranium and of the face forward. (Frontal-facial Propulsion).This procedure can also be done at a younger age, if required, due to functional problems (occlusive apnea, increased intracranial tension, which causes a decrease of the vision) which demand
  • an immediate solution.

deformities 6

Even though the problems seem insurmountable and it is natural for them to constitute a significant source of stress for the parents, nonetheless, a systematical approach as part of a well-organized Craniofacial Centre, their handling) is achieved correctly and with the least possible hardship of the child and of its family.


Apert Syndrome

FREQUENCY

The Apert Syndrome constitutes one of most severe syndromes and it is presented with a frequency of 1 occurrence in every 65 000 births, up to 1 occurrence in every 88 000 births. It is characterized by premature synostoses between the bones of the cranium, but also between the bones of the cranium and of the face. These synostoses cause the distinctive appearance of this syndrome.

CLINICAL IMAGE

The appearance of children with Apert Syndrome is distinctive.

  • The cranium presents a decreased frontal-posterior diameter (brachycephaly). The cranial vault usually presents bone deficiencies.
  • The face is more widened. The orbits are shallow and somewhat distant one from the other. (Platyprosopia).
  •  The development of the average tertile of the face is significantly absent and this constitutes a reason for severe respiratory occlusion.
  • The nose has a characteristic rounded appearance in beak.
  • The dentition presents severe disorders, with overcrowding and an irregular arrangement of the teeth.
  • The palate is arched and frequently enough a cleft exists.

The limbs present a defective function, with malformations in the development of multiple joints, which lead to their malfunction, as well as syndactylies of a severe degree between the fingers and the toes.
One more problem in the Apert Syndrome is the constant deterioration of the clinical image that is observed with the progress of the development.
There are no photographs in the collection.

AETIOLOGY

For the Apert Syndrome two mutations in the FGFR 2 gene of the number 10 chromosome are responsible. These mutations are traced in most instances and they cause disorders of the conformation of the bones and of the cartilages.
The mutations might be inherited by the parents or they might be created without a family history preexisting. Most instances are due to new mutations.

FUNCTIONAL PROBLEMS

Out of the functional problems, the most severe are:

  • Occlusive apnea especially during sleep.
  • Increased intracranial tension, which might be presented at any phase and age (see chapter). The increased intracranial tension might be generalized (therefore it is easily traced) or local pressure might only be applied to the frontal lobes due to the brachycephaly.
  • Eye problems which frequently lead to a decrease of the vision.
  • Mental retardation, which is observed in all of the children with Apert Syndrome, however its severity varies.
  • Oily skin and acne.
  • Frequent instances of otitis.
  • Less emphasis has been attributed in the past to the abnormalities of the respiratory system. Apart from the narrowness of the pharynx, severe problems in the larynx, the trachea as well as the bronchi might exist, which might lead to severe respiratory problems.
  • Finally, a feature of the Apert Syndrome, which is presented in some instances, is megalencephaly, namely the size of the brain being larger than normal.

SURGICAL REHABILITATION

The surgical procedures for the rehabilitation of this syndrome usually begin at infancy.
Depending on the findings it might be required to do:

  • An incision at the posterior segment of the cranium (parietal – region)  so that more space is given to the brain when signs of local pressure exist.
  • An incision and a displacement of the anterior spine of the cranium, namely of the area of the orbits and of the forehead, so that the anterior spine of the brain is decompressed and the exophthalmos (bulging eyes) is improved.

At the age of approximately ten years old a bigger procedure is usually required, the so called frontal – facial propulsion, namely the separation of the frontal segment of the cranium with the μέσο τριτημόριο του προσώπου and their displacement towards the front. The aim of this procedure is the correction of shortness of the cranium and of the face, but also the relief from the occlusive apnea, which always exists in some degree. There is a possibility for this procedure to be done at infancy as well, on a dire basis if the occlusive apnea is of a severe form and cannot be dealt with differently.
At the same time as the beginning of the rehabilitation of the cranio-facial cluster in the Apert Syndrome, the rehabilitation of the hands must begin, on order for the child’s hands to acquire functionality. This is done by special surgeons of the limbs of the hands. Usually the initial procedures pertain to the release of the thumb and gradually of the rest of the fingers.

deformities 8


Pfeiffer Syndrome

It relates to a rare syndrome whose frequency is estimated at 1 occurrence in every 100 000 births.

MORPHOLOGICAL FEATURES

The Pfeiffer Syndrome is characterized by:

  • Synostoses of the cranial sutures, which are responsible for severe deformities of the cranium
  • Hypoplasia (recessive development) of the face
  • Hypertelorism (increased distance between the orbits)
  • Anatomical abnormalities of the respiratory system
  •  Exophthalmos (bulging eyes)
  • Wide thumbs and big toes
  • A diverse degree of syndactylies (fusions between the fingers)

FUNCTIONAL PROBLEMS

The functional problems that accompany it are multiple, frequently of a very severe degree, and include:

  • Respiratory Distress
  • Loss of vision by the exposure of the cornea or by an extended increase of the intracranial tension
  • Neurological problems
  • Loss or decrease of the hearing in over 50% of the population with Pfeiffer Syndrome

Taking into consideration the clinical image, but also the gene mutations that are traced, the condition of a patient might vary from relatively mild up to very severe.
During the procedure of the medical assessment, the patients are ranked into Type 1 (mild form), Type 2 or Type 3 (severe form).
Type 1 patients have normal intelligence and a normal life expectancy.
Type 2 or Type 3 occurrences are more severe forms of the syndrome, which often exhibit problems with the neurological system. In both of these instances, the need for a tracheostomy to be done reaches 100 %, whereas in Type 3 occurrences, mortality reaches 80% with the main causes of death being a respiratory blockage or neurological complications.

REHBALITATION

The general principles of the surgical rehabilitation of the Pfeiffer Syndrome are in general the same that apply for the Crouzon and Apert Syndromes, depending on the severity.
As the clinical image of every patient varies, it is important for the evaluation to be done at an organized centre by a team of doctors with expertise and experience in this kind of illnesses, so that the time-schedule and the necessary procedures are determined for the best possible outcome.


Cranio-Frontal-Nasal Malformation

MORPHOLOGICAL FEATURES

Cranio-Frontal-Nasal Malformation is characterized by:

  • Big distance between the eyes (Hypertelorism)
  • The growing of hair might be irregular with process at the middle line (see photograph) indicative of the abnormality that exists in the development of the middle line
  • Wide base of the nose
  • The nose might be divided in the middle line or it might have an overflow of the soft tissue. The nostrils might exhibit incisions.
  • More rarely a premature synostosis of the coronary suture is observed

Usually the face remains symmetrical, but if a premature synostosis of the coronary suture exists, the asymmetry which designates the synostosis is created.
There are no photographs in the collection.
There are no photographs in the collection.
Other parts of the body (thorax/ limbs) might also exhibit abnormalities in some instances.
People with this syndrome have normal intelligence.

DIAGNOSIS

The diagnosis is done by the clinical examination and it can be confirmed with a gene analysis.

SURGICAL REHABILITATION

The correction of the skeletal abnormality pertains to the removal of the surplus bone segment between the eyes; however it also includes the segment of the nose that contributes to the deformity.
The orbits are moved to their natural position and any asymmetry that may exist on the forehead is corrected.
The procedure is usually done during the seventh year of age (in our preference), so that the bone that is situated on the base of the nose, between the eyes (ethmoid) has developed, and so that a relapse will not occur.
Perhaps the most difficult point of the procedure is for the satisfactory form of the nose to be attributed. In order for this to be achieved, a second procedure is usually required.


Saethre Chotzen Syndrome

MORPHOLOGICAL FEATURES

It relates to a syndrome that is characterized by brachycephaly (See Craniosynostoses), pyrgocephaly (increased height of the forehead and of the cranial vault), with the premature synostosis of the coronary suture being a frequent finding.
People with this syndrome have normal intelligence.

Other morphological features of the syndrome are:

  • Low origin of the grow of hair on the forehead
  • Nasal septum deviation and deviation of the axis of the nose
  • A decline in the upper eyelid
  • Small degree syndactylies

The mutations in the Twist 1 gene of the number 7 chromosome are responsible for the Saethre Chotzen Syndrome. More than 80 mutations have been identified.

DIAGNOSIS

The diagnosis is done by the evaluation of the clinical image and it is confirmed by the gene analysis.

SURGICAL REHABILITATION

At infancy the surgical rehabilitation is usually the same as with the rehabilitation of the bilateral frontal plagiocephaly synostosis (See chapter).
At an older age, the surgical correction is modified according to the deformities that are likely to have occurred from a previous procedure.


Treacher Collins Syndrome

AETIOLOGYHEREDITY

It relates to a syndrome with powerful heredity. If one of the parents has this syndrome, the children have a 50% probability to be born with the same syndrome. In many instances however, it relates to a new mutation that is created during the conception.
Genes that are responsible for this syndrome have been traced relatively recently.  Gene abnormalities cannot be traced in all of the instances.

MORPHOLOGICAL FEATURES

The Treacher Collins Syndrome presents the following morphological disorders, which almost always attack both sides of the face symmetrically.

  • The zygomatical area is hypoplastic with bone deficiencies or even with a complete lack of the zygomatical bone as well. In the same area the lower eyelids exhibit stumps and irregular growth of the hair of the eyelashes.
  • The auricles exhibit various degrees of malformations, with a frequent lack of the auditory meatus.
  • The maxilla might be hypoplastic and a cleft of the palate might co-exist.
  • The mandible is hypoplastic and has a peculiar conformation, which deteriorates the deformity.

There are no photographs in the collection.

FUNCTIONAL PROBLEMS

The functional problems that accompany this syndrome are multiple and some require immediate handling. These problems are:

  • Occlusive apnea at a very high percentage
  • Feeding problems
  • Hearing problems
  • The intelligence is not affected by the Treacher Collins Syndrome and it is usually normal

TREATMENT

New born babies with this syndrome will have to be evaluated as soon as possible by a craniofacial team. Τhe parents on the other hand will have to be prepared for a prolonged period of rehabilitation.

  • If an obvious respiratory distress exists, it is possible that a tracheostomy will be required soon after birth, until a more permanent solution is given, at a subsequent time. Even though in some centres the distraction osteogenesis is implemented, nonetheless this method is not universally acceptable for newborn babies and its implementation is postponed for later on.
  • The sufficient intake of food must be secured (and it is likely that the feeding through a nasogastric tube will be required for a period of time.
  • The determinant of the sufficient feeding is the satisfactory increase of the weight of the newborn baby.
  • The hearing must be evaluated immediately and if needed hearing aids will be implemented, so that sufficient hearing is secured.
  • The correction of the bone deformities, as well as of the soft tissues, is done at a subsequent age depending on the special needs of each instance.
  • In general, the bone deficiencies are supplemented with bone grafts which are usually taken from the cranium, while the deformities of the soft tissues are restored with the use of flaps, movements of muscles and skin grafts.

The dental occlusion and the incongruities of the maxillae are restored with the cooperation of the orthodontist and the surgeon (usually) during puberty.

WHAT MUST NOT BE DONE?

Medical actions which are frequently done and which must be avoided:

  •  A premature attempt at a reconstruction of the auricles. Their rehabilitation is done after the completion of the rehabilitation of the skeletal problems.
  • An attempt at an incision of the meatus, as it rules out in general the effective correction of the skeletal abnormalities, and besides it usually does not bring about the desirable outcomes.
  • Finally, the premature execution of C. T. scan during the neonatal age and during infancy must be avoided, except for special instances.  It is meaningful only when the rehabilitation of the skeletal problems is about to begin.

Hyper/ Palatal- Cardio-Facial Syndrome

It relates to one of the most frequent syndromes, which might attack multiple organs and systems such as the cardiovascular system and the immune system (Di George Syndrome). Difficulties in feeding might be presented and nasal speech with or without a cleft of the palate. In its milder forms it might remain undiagnosed, while in more severe instances it might jeopardize the life of the child.

MORPHOLOGICAL PROBLEMS

The appearance of patients with hyper palatal cardio facial syndrome is often distinctive.

  • It might exhibit muscular hypotonia, with narrow cuts of the eyelids and a “swelling” of the eyelids.
  • The size of the mouth might seem somewhat smaller than the average mouth, with the corners of the lips facing downwards.
  • The speech is usually nasal.
  • The existence of a cleft of the palate or of a sub-mucosal cleft constitutes a frequent finding.
  • The nasal speech is not necessarily accompanied by a cleft of the palate, but it might have as a cause a “sub-dynamic palate-faryngyol” function.
  • The auricles might have a peculiar conformation with a replication of the helix.

A 15% up to 20% of the people with this syndrome have the Pierre Robin sequence.

HOW IS THE DIAGNOSIS DONE?

If any cardiac problems exist, the diagnosis is done at the neonatal age by the paediatricians and the pediatric cardiologists.
If however no cardiac problems exist, then the diagnosis is usually done at an older age by the clefts’ team, which attends to the child due to the cleft of the palate, that the child might have, or due to the nasal speech.
It is highlighted again that a high suspicion index must exist in order to establish the diagnosis.
The diagnosis is confirmed with a gene examination. 90% of instances are related to a new mutation, while a 10% are inherited by the parents.

PROBLEMS THAT ACCOMPANY THE SYNDROME

Aside from the problems that have been mentioned above, people with this syndrome might exhibit learning difficulties, as well as neurological and psychiatric problems at a high frequency.
Out of the people with hyper palatal cardio facial syndrome syndrome, approximately 10% have the DI George Syndrome, which is basically a congenital immunodeficiency with multiple endocrine, immune and cardiac abnormalities.

WHEN AND HOW IS THE REHABILITATION DONE?

If any cardiac problems exist, they will be corrected during the neonatal age, usually with a surgical procedure
If the problem that is exhibited and leads to the diagnosis is the cleft of the palate, the surgical correction of the cleft is done just like in every instance of a cleft.
The problem of the nasal speech in people with the hyper palatal cardio facial syndrome is rather complicated, because it might be due to the hypotonia of the palatal and of the pharyngeal muscles. In these instances, the surgical correction of the palate and speech therapy might not help significantly.
In instances with nasal speech, without the existence of a cleft of the palate or of a sub-mucosal cleft one might resort to a pharyngyoplasty, always with contained optimism concerning the functional outcomes.
If no severe cardiac problems exist, the life expectancy is normal. The children with this syndrome need special attention. In addition, a thorough check must be done so that no data are missed, which will have to be evaluated with extreme caution, for example developmental retardations or immune and endocrinological problems.


Goldenhar Syndrome

It relates to a syndrome for which there are no accurate statistical data for is frequency. However, it does relate to a rear syndrome.
The heredity of the Goldenhar Syndrome has also not been clarified. Until now no particular gene has been incriminated.

MORPHOLOGICAL FEATURES

The image of the Goldenhar Syndrome is the same as the image of the hemifacial microsomia it is characterized by an imperfect conformation, of (usually) one side of the face.
The severity of the deformity varies in this case too, from barely conceivable (mild facial asymmetry, small polypoid skin constructs in the preauricular area up to the most severe degree, with severe hypoplasia of the mandible and of the cheekbone and a serious disorder in the development of the ears.

ADDITIONAL DISTINCTIVE ANATOMICAL TRAITS OF THE SYNDROME

Aside from the disorders mentioned above in the conformation, the Goldenhar Syndrome is characterized by the presence of:

  • bulbar dermoid,namely benign tumors (cysts of the skin) on the eye. (These small tumors although they do not usually cause problems, nonetheless it is not feasible for them to be removed.
  • Anatomical abnormalities in the vertebra.They are usually traced on the vertebrae of the neck, but they might extend to any segment of the spine.
  • Abnormalities in the conformation of the cardiovascular system, of the urogenital system and of the gastrointestinal system.

FUNCTIONAL PROBLEMS

They are the same as those of the hemifacial microsomia, which might be observed only in the severe forms of the syndrome.

  • Respiration difficulty
  • Difficulty in feeding
  • The malformation of the ear when the other ear is normal, it does not constitute a problem relating to the hearing.

The Goldenhar Syndrome is not combined with mental retardation.

DIAGNOSIS – EVALUATION

The diagnosis in this case is also done exclusively by the physical examination. The anatomical details are evaluated with 3D C. T. and M. R. I. scans, which however must not be done at infancy, unless there is a special reason. We would like to remind you that newborn babies and infants are extremely sensitive to radiology.
Additionally the remaining systems (skeletal, cardiovascular, urogenital, gastrointestinal) must be evaluated.
But, necessarily, the child must be monitored by a specialized team so that:

  • The evaluation is complete
  • Any problems that might occur are prevented and
  • The best possible planning is done, for the gradual rehabilitation that will follow

REHABILITATION

The rehabilitation is exactly the same with the rehabilitation in the hemifacial microsomia
Previous experience has proven that surgical procedures that are done prematurely, must usually be repeated at a subsequent time, under more difficult conditions due to the scars that have been created and because the donor areas have already been used.
As the child grows, a satisfactory appearance must be secured for it, so that that the child is accepted by those of the same age as the child and at school, but the final procedures are transferred for when the development and the dentition have progressed more.


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If you have any questions or need additional information about the treatment of clefts / deformities, please call +357 25761010 or send us an e-mail at info@ccmfc.com.cy.
The Cyprus Cranio Maxillofacial Surgery Center cooperates with the Cyprus Center for Clefts &  Facial Deformities,
MEDICLEFT where a team of specialists monitor patients with similar problems


Text and photo source: Greek Craniofacial Center. The GCC was founded by the late Dr. Alexander Stratoudakis and is directed by Dr. Kostas Alexandrou Craniofacial Surgeon, a member of the Cyprus Center for Clefts& Facial Deformities, MEDICLEFT.