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CROUZONS SYNDROME
(CS)
Name
Title
Role
Date/ Year
CS INTRODUCTION
( AND DEVELOPMENT) Crouzon syndrome was first described in 1912.
Crouzons is a genetic disorder characterized by the premature joining of certain bone of the skull (craniosynostosis) during development, which affects the shape of the head and face.
Many features of Crouzons syndrome result from early fusion of the skull during development.
Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets (eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped mandible (jaw).
Cases with Crouzons syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals.
Cases with Crouzon syndrome have an opening in the lip and the roof of the mouth (cleft lip and palate).
CS INTRODUCTION
(AND DEVELOPMENT) The severity of these signs and symptoms varies
among affected people.
Patients with Crouzon syndrome are usually of
normal intelligence (but vary accordingly).
In Crouzon syndrome synostosis of 2 or more cranial
sutures may be involved, therefore there can be a
risk for increased intracranial pressure (ICP).
There is also a greater chance of hydrocephalus in
these infants than those with single suture fusion
and evaluation and close monitoring by the team
neurosurgeon is important.
CS INTRODUCTION
(AND DEVELOPMENT) After the newborn period, the multidisciplinary team
continues to evaluate the child's needs.
Audiology (hearing test) and speech evaluations are
important to insure good speech and language
development.
Assessment by the ophthalmologist is important,
especially if the eyelids are not protecting the eyes
completely or if there are eye muscle problems.
CS EPIDEMIOLOGY
Crouzon’s disease occurs in one of every 25,000 live births and accounts for 5 % of cases of craniosynostosis.
Crouzon syndrome with Acanthosis Nigricians (AN) is found in an estimated 5-10 % of all crouzon cases. (will be described briefly later!!).
CS is the most common craniosynostosis syndrome.
More than half of cases are new mutations.
Intracranial anomalies include hydrocephalus, Chiari 1 malformation (displacement of the cerebellar tonsils below the level of the foramen magnum) and hindbrain herniation (70 %).
CS GENETIC
INFORMATION Inherited in an autosomal dominant pattern, which
means one copy of the altered gene in each cell is sufficient to cause the disorder.
Mutations in the FGFR2 gene (chromosome 10) cause Crouzon Syndrome.
The FGFR2 gene provides instructions for making a protein called fibroblast growth factor receptor 2.
This protein is important in bone growth, particularly during embryo development.
Mutations in FGFR2 probably over-stimulate signaling by the FGFR2 protein, which causes the bones of the skull to fuse prematurely.
CS GENETIC
INFORMATION In some cases, an affected individual inherits the
mutation from one affected parent.
These cases occur in people with no history of the
disorder in their family.
Crouzon syndrome with Acanthosis Nigricans (AN) is
caused by changes in the gene FGFR3 mapped on to
chromosome 4.
The cause is not currently known.
If parent has crouzon syndrome, there is a 50 %
probability that child will develop it.
CS ACANTHOSIS NIGRICANS
(AN) Just so that we cover the whole picture, I will describe AN.
What is AN?
Acanthosis Nigricans is a disorder that may begin at any age.
It causes velvety, light-brown-to-black, markings usually on the neck, under the arms or in the groin.
Acanthosis Nigricans is most often associated with being overweight.
Why is it associated with CS?
Probably genealogically related
No one really knows!!
CS AND FORMS OF
CRANIOSYNOSTOSIS FORMS OF
CRANIOSYNOSTOSIS
Localized
Coronal suture only – asymmetrical skull
Sagittal suture only – a long narrow skull
Generalized
Multiple sutures resulting in microcephaly and developmental delay
Genetic syndromes, e.g. with exophthalmos in Crouzon’s syndrome
CS CRANIOSYOSTOSIS AND SKULL
DEFORMITIES The cause of craniosynostosis is unknown.
The incidence of primary craniosynostosis is approximately 1 per 2000 births.
The prevailing hypothesis is that abnormal development of cranial base creates exaggerated forces on the dura mater that disrupt normal cranial suture development.
These deformities are much more common in males than in females and are associated with other skeletal anomalies.
The type of deformed skull that forms depends on which sutures close prematurely (which we will go onto to see shortly!!).
HYDROCEPHALUS Hydrocephalus is established as an increase in fluid
within cranial spaces.
Ultimately hydrocephalus is a complication in patients
with Crouzon Syndrome because of increase pressure in
cranial tissue.
Symptoms of Hydrocephalus in infants include abnormal
enlargement of the head; soft spot (fontanel) is tense
and bulging; scalp can appear thin; bones separated in
baby's head; prominent scalp veins; vomiting;
drowsiness; irritability; downward deviation of baby's
eyes; seizures; or poor appetite.
VENTRICLUOPERITONEAL SHUNT (VP)
Shunting is necessary to
drain the excess fluid and
relieve the pressure in
the brain.
This should be done as
soon as hydrocephalus is
recognized to give the
child the best possible
neurological outlook.
CS ANATOMY (SUTURES)
Sutures and
fontanelles in the
normal newborn
skull.
CS ANATOMY (SUTURES)
(Left) Sagittal synostosis
(superior view) with a
ridged, fused sagittal
suture,
bitemporal narrowing,
and (right) frontal and
occipital bossing.
CS CHARACTERISTICS
Crouzon Syndrome (CS)
Skull is prematurely fused and unable to grow normally (craniosynostosis)
Bulging wide-set eyes due to shallow eye sockets – OCULAR PROPTOSIS – (see page 14)
Small underdeveloped mandible (superior jaw)
Inferior slanting eyelids
High, narrow, arched palate
Acanthosis Nigricans (AN)
Dental abnormalities due to crowded teeth and narrow palate
Poor vision
Ear diseases and hearing loss in roughly 50 % of children
Difficulty in breathing due to small airway.
Darkened rough patches of skin found in the folds of the body
Signs of discolouration begin between ages 2 and 4
Does not advance after age 12
CS CT/RADIOLOGY
CS MRI IMAGE AND ILLUSTRATION
CS WORK-UP
Patient History
Physical Examination
Radiological studies that may include all or one of the following:
Plain radiography
CT or MRI
Examination of jaw structure to gain position of the maxilla relative to the mandible
Examining of the eyes to look for papilledema and evidence of ICP
Other abnormalities are sought, and the child’s mental development is carefully assessed.
An orthodontist should see the child and initiate treatment when indicated.
Sleep studies
Psychometric Evaluation
CS HISTORY AND EXAMINATION
HISTORY
Try to establish any causes of a complicated
birth
Duration of gestation
Birth weight
History of infant’s sleeping position is paramount
in differentiating craniosynostosis from
plagiocephaly without synostosis.
CS HISTORY AND EXAMINATION
EXAMINATION - Various but some include:
Head Circumference
Facial Examination – may show a tilt and contralateral flattening in
cases of deformational plagiocephaly.
Shape of Cranium
Eye Exam - ICP
Orthodontic Examination
Ear Exam
Look for AN – not apparent in all cases
Nasal Examination - Beaked-like nose
CS
SIGNS AND SYMPTOMS
SIGNS
Hearing loss
Deformity of middle ears
Absence of ear canals
Vision problems
Crossed eyes or involuntary eye
movement
Curvature of the spine
Headaches
In some cases, fused joints
Acanthosis Nigricans
SYMPTOMS
Flattened top and back of head
Flattened forehead and temples
Mid-face that is small and
located further back in the face
than normal
Compression of nasal passages,
often causing reduced airflow
through the nose
Misalignment of teeth
High-arched, narrow palate, or
cleft palate
CS CLINIAL
EVALUATION/ FINDINGS
Haider Kabbani M.D and Talkads Raghuveer M.D say the best time to intervene for surgical correction is when the infant is between 3 and 9 months for craniosynostosis but patients with signs of raised ICP, i.e. CS (may require urgent decompression).
Detection of Micro or Macro-cephaly caused by hydrocephalus.
Persistent ridging at the suture lines in an infant with an abnormally shaped head is suggestive of craniosynostosis.
CS PHARMACOLOGY INTERVENTION
Unfortunately I could not find anything in regards to CS and pharmacotherapy.
May be someone here knows something or would like to do some searching!!!
CS SURGICAL
INTERVENTION Surgical intervention really does depend upon the severity of CS and
associated abnormalities. Surgical approach should be made using a
multidisciplinary effort. The following surgical procedures are
performed in CS patients :
Frontal orbital advancement to allow the skull
to grow properly and to increase the size of the
visual sockets.
Mandible bone surgery.
Orthodontics work.
Surgical advancement of the mid-face.
CS
COMPLICATIONS
Major complication with the CS case is craniosynostosis
Increased intracranial pressure
Asymmetry of the face and facial features
Asymmetry of the orbits leads to strabismus
Intra-operative complications include massive blood loss and air embolism
Because of hydrocephalus formation, patients may have ventriculoperitoneal (VP) shunt performed and can be complex in this patient.
CS MANAGEMENT &
EDUCATION To prevent plagiocephaly, parents should be instructed
to alternate their infant’s sleep positions on the right and left occiput.
Limit seating in the car that maintains the supine position.
Exercises to relieve torticollis and positioning the rounded side of the head on the mattress may aid correct a flattened head.
Some cases may use skull-moulding helmets and this may be necessary.
Consult neurosurgeon if there is a lack of improvement or disease progression.
CS TREATMENT &
PROGNOSIS Ultimately if CS is diagnosed early there is very good
prognosis but it depends on the malformation severity.
In the majority of CS patients, surgical intervention is applied and it is important to get this in place as soon as possible.
This is a multidisciplinary approach.
Patients usually have a normal lifespan.
There are no treatments of beneficial use. More research is required for this particular department!!!
Have I sparked any interests???
IT REALLY IS A MULTIDISCIPLINARY
EFFORT!! Teams involved in a CS case: First and Foremost the Child’s Parents to make decisions.
Neurosurgeon
Paediatrician
Neuroradiologist
Plastic Surgeon
Oromaxillofacial Surgeon
Craniofacial Anesthetist
Orthodontist
Dentist
Orthopedist
Ophthalmologist
Clinical geneticist
Speech, Physical, and Occupational Therapists
Psychosocial team
REFERENCES
www.pruenergang.de/vdpp/surgery.html
www.kidsplastsurg.com/crouzon.html
http://ghr.nlm.nih.gov/ghr/
www.aafp.org
www.faces-cranio.org/Disord/Crouzon.htm
www.aocd.org/
www.emedicine.com/plastic/byname/congenital-syndromes.htm#target2
http://healthgate.partners.org/browsing/browseContent.asp?fileName=22576.xml&title=Crouzon%20Syndrome
www.umm.edu/ency/article/003019.htm
www.emedicine.com/PED/topic511.htm
www.neurosurgerytoday.org
Illustrated textbook of Paediatrics, 2nd Edition Lissauer et al.
Clinical Oriented Anatomy, 4th Edition, Moore et al.
Neuroanatomy through case studies, Blumenfield.
The Biology of Child Health: A Reader in Development and Assessment, Sarah Neill and Helen Knowles
THANK YOU FOR LISTENING!!!!
QUESTIONS???
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