a short but comprehensive ppt on crouzon syndrome.

4. Sagittal involvement
displays a male to female
preponderance of 3:1
whereas with coronal
involvement there is a
slight female predilection.

5. Crouzon syndrome or craniofacial
dysostosis is one of a rare group of
syndromes characterized by
craniosynostosis, forming upto 4.8% of all
cases of craniosynostosis.
It occurs in about 1 of every 65,000 births
as an autosomal dominant disorder.

6. Cases of Autosomal recessive
inheritances have also been
described.
The pathological variations found
are believed to be caused by one
of a variety of mutations of the
fibroblast growth factor 2 (FGFR2)
gene on chromosome 10q26.

7. CASE DESCRIPTION
 A 9 year old male patient reported with a
complaint of enlargement of gums in the upper
front teeth region since 2 years.
There was gradual and constant increase in
size of the gums since its onset.

8.  His permanent left upper front tooth had not
erupted since 6 months following exfoliation of its
deciduous counterpart.
There was history of delayed achievement of
developmental milestones. Patient was not on any
long term medications. There were no systemic
manifestations such as fever or weight loss.

9.  The patient was mentally challenged and was
partially visually impaired in his right eye and
hearing impaired in the right ear.
Family history revealed consanguineous marriage
between the parents.
There was no history of similar complaints in the
family.

10.  On examination, the child
was moderately built and
nourished, revealed a
trigonocephalic skull with
frontal bossing.
 Nasal bridge was
depressed.
 There was hypertelorism,
bilateral ocular proptosis
and strabismus.
 A mild degree of midfacial
hypoplasia was also
present.

11. No anomalies of the upper or lower extremities
were noted.
Intraoral examination revealed diffuse bulbous
enlargement of mucosa over the alveolar ridge in
the region of unerupted left central incisor and the
gingivae around the root stumps of the deciduous
right central, right and left lateral incisor and canine
teeth.

12. The gingiva was non tender and firm in consistency.
Multiple deep carious lesions involving most of the
deciduous teeth were also present.
The clinical findings prompted a diagnosis of
Crouzon syndrome and false gingival enlargement
with respect to the maxillary anterior teeth.

13.  Radiographic and hematologic investigations were advised.
Orthopantomograph showed a mixed dentition with presence of
developing permanent teeth.
 Deep carious lesions affecting deciduous dentition were observed.

14.  The posteroanterior and
lateral skull radiographs
showed obliteration of the
sagittal suture and multiple
convolutional markings
suggestive of a beaten metal
(beaten copper/silver)
appearance
 No other anomalies were
noted in radiographs of the
chest, spine and the
extremities.

15.  The haematological investigations revealed all values
within normal limits.
 The patient was referred to a paediatrician and a
complete systems review did not suggest any new
anomalies.
 Patient was referred to the pedodontist for
comprehensive oral rehabilitation.
 He was also referred to the maxillofacial surgery unit
for surgical correction of facial and skull anomalies.

17. Crouzon syndrome is a genetic disorder, characterized by
abnormal fusion between bones in the skull and face,
resulting in an abnormally shaped head and face.
The phenotypic features of Crouzon syndrome may be
absent at birth and evolve gradually during the first few
years of life.

18. History and
synonyms
Initially
described as
“cranio facial
dysostosis”.
First described by
french neurologist,
octave crouzon in
1912 in a mother and
son exhibiting a triad
of skull deformities,
facial anomalies and
exophthalmos
“Dysostose
craniofaciale
hereditare”
(gorlin et al.,
1976).
Syndromic
craniosynostosis
and premature
craniosynostosis
(davis and
lauritzen, 2008).

19. INCIDNECE
Crouzon’s syndrome
occurs in
approximately 1 in
25,000 births
worldwide.
Prevalence in the
United States is 1
per 60,000.
Crouzon syndrome
makes up
approximately 4.8%
of all cases of
craniosynostoses

21. At birth these are
fibrous and moveable
necessary for growth.
When one or more sutures fuse
prematurely growth perpendicular to
that suture is restricted.
(Craniosynostosis)
This leads to increased
intracranial pressure as
brain is growing in size.
This leads to optic
atrophy, exopthalmos,
nystagmus and
hypertelorism.

23. The molecular analysis
of craniosynostosis
syndromes identifies
mutations in the
fibroblast growth factor
receptor 2 (FGFR2)
gene, which is mapped
to chromosome locus
10q25-q26.
In more than 50% of
cases with Crouzon
syndrome, mutations
in the FGFR 2 gene,
several mutations
withinin the Ig III
domain of FGFR 2
and a novel mutation,
Tyr 281 Cys
substitution at the
exon IIIa of FGFR 2
were observed.

24. The premature sutural
closing leads to cranial
malformations, such as
• brachycephaly(short head)
• scaphocephaly (boat
shaped head)
• trigonocephaly (triangle-
shaped head)
The most severely affected
patients can demonstrate a
“cloverleaf” skull
(kleeblattschadel deformity)

25. Clinical features
Ocular Respiratory
Dental Ear

26. Ocular

27. Normal intercanthal
distance- approximately
30–31 mm
""Resident Manual of Trauma to the Face, Head, and Neck, Ed. 1"" 12
January 2015
Hypertelorism

29. Divergent Strabismus

31. Dental
Maxillary hypoplasia
Hard palate- narrow and high

33. The crowding of the maxillary arch is
a well recognized feature and is
thought to be related to a lack of
maxillary growth due to premature
suture fusion.
The aetiology is generally due
to a retrusive and short maxilla
with relative mandibular
prognathism.

34. RESPIRATORY
The obstruction of the upper respiratory
passages develops, following the septal
diversion, abnormalities to the center of the
nose and epipharynx narrowing.
It can lead to acute respiratory anxiety,
dyspnea of the type polypnea and even sleep
apnea, mainly when connected to maxillary
hypoplasia

35. Ear
Approximately one-third of
patients with CS suffer from
hearing loss due to middle
ear deformities.

36. Radiographic
• Radiographs of the skull revealed obliteration of sagittal
and coronal suture lines with obvious bony continuity.
• A hammered-silver (‘beaten metal/ copper beaten’)
appearance seen in the regions of the skull due to
compression of the developing brain on the fused bone.

37.  Calcifications of the
stylohyoid ligament.
 Pointed nose
(psittichorhina/parrot
beak-like nose) due to the
short and narrow maxilla.

38. SPINE RADIOGRAPH
 Abnormal craniocervical junction
 Butterfly-shaped vertebrae
 Fusion of cervicalvertebrae (C2-C3 and
C5-C6) may be visible.

39. CT scan
• Hydrocephalus

40. Agenesis of the
corpus callosum.

41. DIFFERENTIAL DIAGNOSIS
 Apert syndrome
 Pfeiffer syndrome
 Carpenter syndrome
 Saethre-Chotzen syndrome

42. APERT SYNDROME
 similar to those found in the CS except malformation of the hands
and feet, with symmetric syndactylus generally the second, third
and fourth digits.

43.  Pfieffer syndrome shows craniosynostosis, broad thumb and great
toes, cardiovascular malformation and soft - tissue syndactyly of
hand and feet.

44.  Carpenter syndrome also shows syndactyly, heart defects and
craniosynostosis but mental retardation is seen in nearly all
cases.

45.  Saethre-Chotzen syndrome is a mild form of congenital bone
deformation with craniosynostosis, low set frontal hair line,
deviated nasal septum, variable facial symmetry and there is less
proptosis and hypertelorism versus CS.

46. MANAGEMENT

47. Management of CS patients varies according to
the age of the patient and the severity of the
disease.
CS can vary in severity from a mild
presentation with subtle midface deficiency to
severe form with multiple cranial sutures fused
and marked midface and eye problems.

48. For optimum treatment planning, early
diagnosis and multidisciplinary approach is
required.
Ideally release of prematurely fused sutures
should be done during the first year of life
(after 3-6 months) by a neurosurgeon, so that
adequate cranial volume for brain growth and
expansion is available

49.  Skull reshaping may need to be repeated as the child grows to
give the best possible results.
 Sometimes, the patient consults quite late when complications
have already developed and it is prudent to refer to specialists for
co-management.
 Evaluation and monitoring of blindness due to optic atrophy can
be done by the ophthalmologist.


50.  Malocclusion and other dental problems- co-manage by the
dental team.

51.  Surgery is the mainstay of treatment for CS, but if
diagnosed prenatally, at birth or shortly after birth, then
drug (nonsurgical intervention) such as PD173074
may be used in future to reduce the growth
disturbances seen with the syndrome and limit the
frequency or invasiveness of surgical interventions.
 This hope is created by the research of Perlyn et
al., who reported successful use of PD173074 to
prevent in vitro suture fusion in a mouse model of CS.
 PD173074, a pyrido-pyrimidine, is a selective FGFR
tyrosine kinase inhibitor.

52.  Fibroblast growth factor receptor (FGFR1) is a growth
factor receptor tyrosine kinase, and these kinases are
known regulators of various cellular processes,
including proliferation, migration, survival and
angiogenesis.
 Fibroblast growth factor receptors have a key role in
the proliferation and differentiation of tumour cells, and
recent studies have focused on the role of the FGFR
family (especially FGFR3) in carcinogenesis (Lamont
et al, 2011)
British Journal of Cancer (2013) 109,
2248–2258

53.  As far as management of dental manifestations in
growing CS patients is concerned, an attempt to
correct the maxillary hypoplasia and anterior crossbite
by means of rapid maxillary expansion and protraction
of the maxilla using facemask or distraction
osteogenesis can be done.
 Hlongwa reported correction of anterior crossbite by
maxillary anterior expansion in a 7-year-old CS patient
and advised early orthodontic management to prevent
severe skeletal discrepancy.

54.  To treat the hypoplastic midface in adults, two options
are advised in the literature.
 Use of distraction osteogenesis for reconstruction, but it is not cost-
effective.
 A more affordable option is to do a LeFort III osteotomy for midfacial
advancement which corrects class III malocclusion and
exophthalmos.
 This may have to be supplemented by rhinoplasty,
genioplasty, and bone grafts.

55. COMPLICATIONS
 Conjunctivitis or keratitis,
 Luxation of the eye globes,
 Poor vision due to optic atrophy and corneal injury,
 Blindness.
 Frequent headaches, seizures, mental deficiency, increasing
hydrocephaly, conductive hearing deficit, upper airway obstruction
develop secondary to septal deviation, midnasal abnormalities,
choncal abnormalities and nasopharyngeal narrowing,

56. PROGNOSIS
 Depends on severity of malformation.
 Innovations in craniofacial surgery have enabled
patients to achieve their full potential by maximizing
their opportunities for intellectual growth, physical
competence and social acceptance.
 Patients usually have a normal lifespan.

57. CONCLUSION
It is important that dental professionals be able to
diagnose craniofacial abnormalities so that
families can be properly counseled and referred to
appropriate craniofacial centre.
Early diagnosis and management is crucial in such
cases to prevent complications like mental
retardation, decrease in visual acuity and poor
cosmetic appearance.

58. REFERENCES
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 Gordana stankovic-babic and rade r. Babic,
ophthalmological and radiological picture of crouzon
syndrome – a case report: acta medica medianae
2009,vol.48.
 Kanaparthy r, kanaparthy a craniofacial dysostosis-the
dental perspective: a case report. (2012) 1: 196.

59.  Daniel N. Vinocur and L. Santiago Medina, Imaging in the Evaluation
of Children with Suspected Craniosynostosis: Chapter 4 Imaging in
the Evaluation of Children.
 Kumar GR, Jyothsna M, Ahmed SB, Lakshmi KS, Crouzon’s
Syndrome: A Case Report. Int J Clin Pediatr Dent 2013;6(1):33-37.
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 Gagan Dogra, Parampreet Pannu, CROUZON’S SYNDROME: A
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