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ABSTRACT : Crouzon syndrome is a rare craniofacial dysostosis with autosomal dominant mode of inheritance with variable phenotypic expression .It is characterized by early closure of cranial sutures leading to range of problems like calvarial deformities, midface hypoplasia and exopthalmus. Early diagnosis is critical in these cases to avoid complications like hearing and vision problems.There are 50% chances of transmission when one of the parents is affected. We hereby report a familial case of a 9yr old girl and mother along with pedigree analysis of the trait

1 2 3Lavina Taneja, Vishal Arya , Puneeta Vohra1,3Reader, Department of Oral Medicine and

2Radiology, Professor, Department of Pedodontics and Preventive Dentistry,Faculty of Dental Sciences, SGT University,Gurgaon.

INTRODUCTION : Louiss Edouard Octave Crouzon , a

French neurosurgeon ,in 1912 first published a case of a

mother and son with abnormal facial features. The

eponymous syndrome was described by him as a classic triad

of calvarial deformities,facial anomalies and exopthalmus.

[1] Crouzon syndrome or craniofacial dysostosis is one of a

rare syndrome occurring 1 in every 25,000 live

births.[2]There is 50% risk of transmission if one of the

parents has the disease. [3]There is autosomal dominant mode

of inheritance is about 67% of cases others with autosomal

recessive and spontaneous mutation have also been

described.[ 4]

The phenotypic expression of the abnormality varies between

the affected members of same family. The order and rate of

fusion is determining factor.The present case report

highlights a familial case of a 9 year old female patient and

mother along with pedigree analysis of trait running in

maternal family.

Case report

A 9 yr old female patient reported to the department with the

chief complaint of deposits on teeth since 6 months. This was

her first dental visit. Medical history revealed recurrent eye

infection and hearing problem. General examination revealed

short stature and hand and feet were normal.She was of

normal intelligence On extraoral examination examination

patient had straight profile,frontal bossing,flat

forehead,depressed nasal br idge,hypertelor ism,

exopthalamous , short upper lip,low placed ears(figure 1).

Figure 1: Frontal view of child showing hypertelorism,

proptosis, flat forehead,short upper lip

On intraoral examination there was edentulous space wrt 12

and 22, stains and calculus, ,high arched palate( figure 2) and

crowding of lower anteriors. Maxillary arch was v shaped

FAMILIAL CASE OF CROUZON SYNDROME : CASE REPORTAND REVIEW OF LITERATURE

Journal of Dental Sciences

University

Keywords : Crouzon syndrome,Familial,Pedigree

Source of support : NILConflict of interest : NIL

Case Report

with posterior crossbite on right side (figure 3).Patient was

accompanied by her mother who also showed typical

facies.Mother had flat forehead, proptosis, hypertelorism

(figure 4) and gave history of severe headache specially in

summer season. There was no history of consangious

marriage. Father was normal and couple's elder son also had

no such features. Patient's maternal family had history of

similar facies as depicted in pedigree analysis. (Figure 5)

Pedigree showing the trait depicted as dark in maternal

family of patient.

Figure 2-Intraoral oicture showing high arched palate.

Figure 3 Intraoral picture showing missing 12 and 22,

crossbite on right side and anterior open bite.

Figure 4:Mothers frontal view showing flat forehead,

proptosis and hypertelorism. Pedigree analysis

Figure 5 : Pedigree analysis

Patient was advised OPG (figure 6), lateral cephalogram

(figure 7)., PA cephalogram (figure 8). The skull typically

showed copper beaten appearance and small sinuses were

observed. Mothers OPG (figure 9) and Lateral cephalogram

were taken and skull showed copper beaten appearance

(figure 10).

Figure 6: OPG of the child

Fig.7:Lateral Ceph of child showing copper beaten appearance

Fig. 8:PA Skull of child showing copper beaten appearance

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Figure 9: OPG of Mother

Figure 10 : Lateral Ceph of Mother showing copper beaten

appearance.

Based on the above findings and investigation patient was

diagnosed as a familial case of crouzon syndrome. Mother

was also informed about her status and genetic transmission

and counseled about complication and correlation with

ophthalmic and hearing problem. Mother was also informed

about her own status. Patient was refered for routine scaling

and cleaning, and ophthalmologist and ENT opinion and oral

surgery and orthodontic advice.

DISCUSSION : Mutation of fibroblast growth factor

2(FGFR2) gene located on chromosome 10q25- 26 is related

to Crouzon syndrome.About 25 mutations have been

identified to its pathogenesis. 5There is 50%of risk of

transmission when one of the parents has a disease without

dependence on individual's sex. 3

FGFR mutation results in secretion of cytokines in

autocrinous and paracrinous manner that leads to

modification of matrix. These changes in genesis in the

osteogenic process lead to the pathosis. 6

There is no racial or sexual predilection for this syndrome but

sagittal and metopic suture fusion displays male

predominance whereas coronal suture involvement shows

slight female predilection. 7

Fibrous sutures in the skull and face are abnormal i.e they fuse

early resulting In distorted bone growth leading to

craniofacial abnormalities i.e. craniostenosis. 8 There is

premature closure of cranial suture most commonly coronal

and saggital suture .Once the suture is fused growth

perpendicular to that suture becomes restricted and starts

parallel to the suture and the fused bone act as a single bony

structure.Compensatory growth of open sutures occur to

allow brain growth. [9]

During infancy, the coronal and saggital suture and

occasionally lambdoidal suture fuse early and this is

completed by second or third year. The condition is usually

detected in the first year of life .However congenital

premature forms may also exist in which fusion starts in utero

life and is evident at birth.

Premature fusion of cranial base leads to shallow orbits

leading to ocular proptosis are seen in 100% of patients

.Other ocular abnormalities like hypertelorism,strabismus

and reduced vision acquity are also seen.Hypertelorism

occurs due to decrease in growth of sphenozygomatic and

sphenotemporal suture.[10]

Approximately one third of these patients suffer from hearing

loss due to middle ear deformities and upper airway

obstruction due to midface hypoplasia and narrow

epipharynx. [11]

Diminished mental function is present in about 12% of

patient's. Headache and apprehension because of intracranial

pressure and progressive hydrocephaly is seen in 30%cases.

[9]. The clinical features of Crouzon Syndromeare tabulated

in table 1.

Radiographic examination play a crucial role in the diagnosis.

The earliest sign are sclerosis and overlapping edges

representing suture synostosis. Normally radiolucent sutures

on the skull view are not detected or show sclerotic changes.

Digital impression of inner surface of cranial vault which

appear as multiple radiolucency. 2Typical name given to this

appearance of calvarium on skull radiograph are beaten

metal/copper beaten/hammered silver appearance. It

represents internal remodeling of calvaria due to increase in

intracranial pressure as a result of premature cranial suture

fusion.

Spine radiograph may reveal fusion at C2-C3 or C5-C6 level

and at times butterfly vertebrae and fusion of posterior body

and element. 4These changes are seen in 18% of patients. 4CT

Scan reveals fused sutures along with indentation on inner

table of skull, hydrocephalus, midface hypoplasia, shallow

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orbits and small paranasal sinuses .MRI is used to view corpus

callosum occasional agenesis and optical atrophy.

Table -1 showing clinical features f Crouzon Syndrome

DIFFERENTIAL DIAGNOSIS : 100 syndromes with

craniostenosis have been described.The most common and

well known among these are Crouzon and Apert syndrome.

Table - 2 showing differential diagnosis of Crouzon

Syndrome

CONCLUSION : Dental professionals can play a pivotal

role in early recognition and diagnosis of these condition and

through counseling to the affected families regarding genetic

transmission.Early intervention by multidisciplinary

approach thus can prevent complications like effect on

blindness,hearing loss and mental and psychological growth.

ACKNOWLEDGEMENT : I would like to acknowledge

Dr. Akshika Sharma for the support and help in preparation of

this manuscript.

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CORRESPONDING AUTHORS:

Dr. Lavina Taneja

A 150 Second floor, Lok vihar, Pitampura,

New delhi 110034

E mail : tanejalavina@yahoo.com

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