Abstract

In 1912, a French neurologist, Octave Crouzon (1874-1938) first described the crouzon syndrome and in 1937 Atkinson
reviewed eighty six cases that were published and found about 67% of the cases were familial and 33% were sporadic,
representing new mutations. Crouzon syndrome has a prevalence of 15-16% in one million new born and 4.5% of all
craniosynostosis. Here we present a case of crouzon syndrome in 6 year old boy with review of literature.

Introduction

Crouzon’s syndrome was first described by a French neurologist, Octave Crouzon in the year
1912 as one of the varieties of craniosynostosis. It is otherwise called as craniofacial dysostosis
[1]. It has a prevelace of 15-16% in one million new born and 4.5% of all craniosynostosis. The
genetic defect from mutation in the fibroblast growth factor receptor 2 (FGFR) on chromosome
locus 10q25q26 which results in the early fusion of the skull bones during the development of
the foetus. Cranial malformation in Crouzon syndrome depends on the order and rate or
progression of sutural Synostosis [2]. Here we present a case of crouzon syndrome in 6 year old
boy with review of literature.

Pendahuluan � crouzon � � s syndrome adalah pertama kali dideskripsikan oleh seorang

neurolog perancis, oktaf crouzon pada tahun 1912 sebagai salah satu jenis craniosynostosis.Itu
jika tidak disebut sebagai craniofacial dysostosis.Ia memiliki sebuah prevelace dari 15-16 %
yang baru lahir dalam satu juta dan 4.5 % dari semua craniosynostosis.Cacat genetik dari mutasi
di fibroblast reseptor faktor pertumbuhan 2 ( fgfr ) pada kromosom nomor locus 10q25q26 yang
berakibat pada awal fusi tengkorak tulang selama perkembangan janin.Malformasi tengkorak di
sindrom crouzon tergantung pada perintah dan laju atau perkembangan dari sutural synostosis.Di
sini kita hadirkan satu kasus dari sindrom crouzon di 6 anak tahun dengan telaah sastra

Case Report
A 6 year old boy (studying 2nd standard) reported to the department of oral medicine and
radiology along with his parents with the chief complaint of irregularly arrangement of his teeth
for past 1 year. His medical history was non-contributory and his surgical history revealed that
the patient underwent surgery for cleft palate at the age of 1 years. The patient presented with
obvious dysmorphic cranial and facial features. On extra oral examination the enlarged cranial
vault with frontal bossing, maxillary hypoplasia and relative mandibular proganathism was
found. Ocular manifestations such as shallow orbits, hypertelorism, bilateral proptosis, and
strabismus were present. (Figure 1) Other facial features included short and incompetent upper
lip, depressed nasal bridge and enlarged ears without hearing loss. (Figure 2) His hands and feet
found to be normal. On intra oral examination, V-shape maxillary arch with high arched palate
and bilateral palatal swelling, which was mimicking a pseudo cleft? The number of teeth present
was 21, mixed dentition, and multiple decay teeth. (Figure 3 and 4). Patient subjected for
radiographic evaluation. Orthopantomogram (OPG) reveals mal occlusion, bilaterally decrease
distance between coronoid and condylar and normal trabecular bone pattern (Figure 5). Lateral
ceph revelas hypoplastic maxilla, shallow orbit with prominent cranial markings of the inner
surface of the cranial vault seen as multiple radiolucencies appearing as depressions resulting in
the ‘hammered silver’ (beaten metal/copper beaten) appearance indicating internal remodeling of
the calvaria due to an increase in intracranial pressure as a result of premature cranial suture
fusion (Figure 6). Computed tomography (CT) reveals deformation of bilateral lateral orbit wall,
shortening of right zygomatic arch, bilaterally decrease distance between coronoid and condylar
process, V shaped right anterior cranial fossa, mid facial retrusion, high arched palate and
malocclusion of the teeth, enlarged adenoids and bilateral tonsils (Figure 7). Other systemic
examination was found to be normal. Routine haematological and biochemical tests were within
normal limits. With this the final diagnosis of crouzon syndrome was given. The patient is
currently under the treatment for malocclusion and all the decay teeth have been restored.

Discussion
Crouzon’s syndrome was first described by a French neurologist, Octave Crouzon in the year
1912 as one of the varieties of craniosynostosis. It is otherwise called as craniofacial dysostosis
[1]. It has a prevelace of 15-16% in one million new born and 4.5% of all craniosynostosis. The
genetic defect from mutation in the fibroblast growth factor receptor 2 (FGFR-2) on
chromosome locus 10q25q26 which results in the early fusion of the skull bones during the
development of the foetus. Cranial malformation in Crouzon syndrome depends on the order and
rate of progression of sutural Synostosis.
Crouzon syndrome, described as one of the varieties of craniofacial dysostosis, is caused by
premature obliteration and ossification of two or more sutures, most often coronal and sagittal.
Some authors connect those syndromes as one, calling it Crouzon-Apert syndrome but
symptomatologic differentiation makes classification difficult.
Although there is considerable individual variation in the appearance of patients with
craniofacial dysostosis, the signs are all basically due to early synostosis of the sutures. Facial
deformity is observed at birth, followed with time by other features of the syndrome.
Craniosynostosis commonly begins during the first year of life and is usually complete by 2–3
years of age. In some cases, craniosynostosis may be evident at birth. In our patient also the
features started developing from the birth gradually given by history of the parents.
Occasionally no sutural involvement may be noted. Shallow orbits and ocular proptosis are
diagnostic features of Crouzon syndrome. Ocular proptosis, a feature occurring in 100% of the
cases, is secondary to shallow orbits and results in a high frequency of exposure conjunctivitis or
keratitis. Luxation of the eyeglobes has been observed in some cases. In our patient all the
features of craniosynostosis as well as feature of ocular proptosis is seen but ketatitis was not
presented.
Low frequency findings include nystagmus, iris coloboma, aniridia, anisocoria, corectopia,
microcornea, megalocornea, keratoconus, cataract, ectopia lentis, blue sclera, and glaucoma. In
our patient all these feature was not present.
Approximately 50% have lateral palatal swellings but only in a few instances are they large
enough to produce the median pseudocleft palate appearance found so frequently in Apert
syndrome. In our case the palatal swelling was present which mimics the pseudocleft.

Because of maxillary hypoplasia in Crouzon syndrome, the anteroposterior dimension of the

maxillary dental arch is shortened. Dental arch width is also reduced, and the constricted arch
gives the appearance of highly arched palate, although palatal height is normal by measurement.
Progressive hydrocephalus, chronic tonsillar herniation, and jugular foramen stenosis with
venous obstruction occur with significant frequency. Headaches were found in 29% in
Kreiborg’s series. Seizures occurred in 12%, and marked mental deficiency was found in only
3%. In our patient there was no such headache, seizures and mental deficiency.

Conductive hearing deficit is found in 55% and atresia of the external auditory canals occurs in
13%. Deviation of the nasal septum was observed in 33% of Kreiborg’s series. Calcification of
the stylohyoid ligament was especially common, being found in 88%. Cervical spine anomalies
were also common 30%. In our patient, present with enlarged ears with no hearing loss, has a
shallow nasal septum without any deviation. There was no calcification of the stylohyoid
ligament and cervical spine anomalies. Differential diagnosis of Crouzon syndrome includes
Apert syndrome and Pfeiffer syndrome. Apert syndrome will have all the manifestation that will
be seen Crouzon syndrome except for the syndactyly of hands and feet. In case of Pfeiffer
syndrome broad thumbs, broad big toes and partial and variable soft-tissue syndactyly of the
hands and feet will be presented in additional to the features of Crouzon syndrome.

A neurosurgical procedure is recommended in cases of intracranial hypertension leading to further optic atrophy.
The surgery is difficult, and the procedure must be considered and undertaken in stages. Plastic surgery of the face
could be of great help. It is one of the few syndromes where the cosmetic results of the surgery can be strikingly
effective [7]. These patients may ultimately come to lead a relatively normal life. In our patient, we plan for
orthodontic treatment during the growing stage and a final orthogenetic surgery will be performed after the
puberty if required.

Conclusion
Crouzon syndrome is relatively one of the rare syndromes. Dental professionals should have sufficient knowledge
of syndromes associated with dysmorphic faces to detect patients who are unaware of their condition, so they
may be identified and sent for early investigations and management as required to prevent complications due to
late diagnosis.