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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.

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.

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.

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.

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.

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.

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.

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.

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.

Incidnece

Clinical features

Ocular

""Resident Manual of Trauma to the Face, Head, and Neck, Ed. 1""12 January2015

is thought to arise due to a decrease in growth of the sphenozygomatic and sphenotemporal sutures.

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abnormal alignment of the eyes29

Nystagmus- s a condition of involuntary (or voluntary, in rare cases)[1]eye movement, acquired in infancy or later in life, that may result inreduced or limited vision.[2]Due to the involuntary movement of the eye, it is often called "dancing eyesAcoloboma(from the Greekkoloboma, meaning defect,[1]) is a hole in one of the structures of theeye, such as theiris,retina,choroid, oroptic disc.Anisocoria(IPA:/naskri/) is a condition characterized by an unequal size of the eyes'pupils30

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

Ear

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.

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

Others

spine radiographAbnormal craniocervical junctionButterflyshaped vertebrae Fusion of cervicalvertebrae (C2C3 and C5C6) may be visible.

Hydrocephalus

Hydro- water, kephalos head. Medical condition in which thr is an abnormal accumulation of CSF in brain. Causes increased intra cranial pressureinside the skull and causes progressive enlargement of skull.39

Agenesis of the corpus callosum(ACC) is a rare birth defect (congenital disorder) in which there is a complete or partial absence of thecorpus callosum.also known as the callosalcommissure, is a wide, flat bundle of neural fibers about 10 cm long beneath thecortexin theeutherianbrainat thelongitudinal fissure. It connects the left and rightcerebral hemispheresand facilitates interhemispheric communication. It40

Differential diagnosisApert syndrome Pfeiffer syndromeCarpenter syndrome Saethre-Chotzen syndrome

Apert syndromesimilar to those found in the CS except malformation of the hands and feet, with symmetric syndactylus generally the second, third and fourth digits.

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

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

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.

Management

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.

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

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.

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

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.

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, 22482258

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.

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.

ComplicationsConjunctivitis 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,

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.

conclusionIt 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.

References Steven l. Singer, dentofacial features of a family with crouzon syndrome. Case reports: australian dental journal 1997;42:1.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.

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, Crouzons Syndrome: A Case Report. Int J Clin Pediatr Dent 2013;6(1):33-37.

Mohan RS, Vemanna NS, Verma S, Agarwal N. Crouzon Syndrome: Clinico-Radiological Illustration of a Case. J Clin Imaging Sci 2012;2:70.Gagan Dogra, Parampreet Pannu, CROUZONS SYNDROME: A CASE REPORT: Indian Journal of Dental Sciences.

Arathi r. Sagtani a. Baliga m. Crouzons syndrome: A case report: J indian soc pedod prevent dent - supplement 2007Tanwar R, iyengar AR, nagesh KS, subhash BV. Crouzons syndrome: A case report with review of literature. J indian soc pedod prev dent 2013;31:118-20.Aya m. Tokumaru, A. James barkovich, samuel F. Ciricillo, skull base and calvarial deformities: association with intracranial changes in craniofacial syndromes: AJNR: 17, april 1996

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