Medical Journal of Dr. D.Y. Patil Vidyapeeth

CASE REPORT
Year
: 2013  |  Volume : 6  |  Issue : 3  |  Page : 321--323

Crouzon syndrome


Neha Rajappa1, Sadananda Patra1, Abha Gahlot1, Snehal Bhalsing2,  
1 Department of Ophthalmology, Padmashree, Dr D Y Patil Medical College, Hospital and Research Centre, Dr D Y Patil Vidyapeeth, Pune, India
2 Department of Ophthalmology, Goa Medical College and Hospital, Goa, India

Correspondence Address:
Neha Rajappa
1101, A-Wing, Monarch, Ashar Residency, Pokhran Road - 2, Thane - 400 607, Maharashtra
India

Abstract

Crouzon syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Normally, the sutures in the human skull fuse after the complete growth of the brain, but if any of these sutures close early, then it may interfere with the growth of the brain. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. A case of Crouzon syndrome is presented here. The clinical and characteristic radiological features and the investigations that were carried out, along with the treatment options are discussed.



How to cite this article:
Rajappa N, Patra S, Gahlot A, Bhalsing S. Crouzon syndrome.Med J DY Patil Univ 2013;6:321-323


How to cite this URL:
Rajappa N, Patra S, Gahlot A, Bhalsing S. Crouzon syndrome. Med J DY Patil Univ [serial online] 2013 [cited 2020 Aug 8 ];6:321-323
Available from: http://www.mjdrdypu.org/text.asp?2013/6/3/321/114675


Full Text

 Introduction



Crouzon's syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity or can appear as a mutation. Described by a French neurosurgeon Octave Crouzon in 1912, [1] it is a rare genetic disorder. Crouzon syndrome occurs in approximately 1 in 25,000 births worldwide. [2] Of these cases, 67% are familial, [3] whereas 33-56% may arise as a consequence of spontaneous mutations. [4]

This syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. [5] The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Once the sutures become closed, growth potential to those sutures is restricted. However, multiple sutural synostoses frequently extend to premature fusion of skull base, causing midfacial hypoplasia, shallow orbit, maxillary hypoplasia, and occasional upper airway obstruction. [6] Intraoral manifestations include mandibular prognathism, overcrowding of upper teeth, and V-shaped maxillary dental arch. [7] Narrow, high, or cleft palate and bifid uvula can also be seen. Occasional oligodontia, macrodontia, peg-shaped and widely spaced teeth have been reported. [6],[7]

While cases have been documented, cases with mental retardation have seldom been reported, and also very few reports have been found on the oral rehabilitation inclusive of preventive procedures in these children. This case report presents Crouzon syndrome in a child.

 Case Report



A 6-year-old girl along with her parents reported to the outpatient department with chief complaint of severe headache. The girl had large eyes at the time of birth and they became more prominent as she grew. Review of medical history was unremarkable. Mother had no antenatal problem and reported normal delivery. Further medical history revealed that the enlarged size of the head was noted by the mother ever since the child was 6 months old and the severity has gradually increased. Family history revealed 3 rd degree consanguinity, with the same problem in her sister.

On examination, the child was disoriented in time, place, and person. She was microcephalic with abnormal shape of skull and hypoplastic orbital ridges. On ocular examination, there was no perception of light in both eyes. There was bilateral proptosis [Figure 1].{Figure 1}

Hypertelorism, pendular nystagmus, and convergent squint were noted. Lagophthalmos was present in her right eye [Figure 2]. Pupils were not reacting to light in both eyes. Funduscopy revealed bilateral optic atrophy.{Figure 2}

Intraoral manifestations included mandibular prognathism and inverted V-shaped palate with dental abnormalities. Facial features included a curved, parrot-like nose. On radiological evaluation, upper and lower extremities showed osteopetrosis [Figure 3].{Figure 3}

Computed tomography (CT) brain showed shallow orbits with proptosis and noncommunicating hydrocephalus [Figure 4]. Systemic examination revealed no abnormality. The final diagnosis of craniosynostosis, most likely Crouzon syndrome, with ocular complications was made.{Figure 4}

 Discussion



Craniofacial abnormalities are often present at birth and may progress with time. Crouzon syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity, but about one-third of the cases do arise spontaneously. Differential diagnosis of Crouzon syndrome considers Apert syndrome and other problems, including Carpenter syndrome, Pfeiffer syndrome, Seatre-Chotzen syndrome, and Jackson Weiss syndrome.

The appearance of a child with Crouzon syndrome can vary in severity from a mild presentation with subtle midface deficiency to severe forms with multiple cranial sutures fused and marked midface and eye problems. Upper airway obstruction can lead to acute respiratory distress, and presence of mental retardation is rare in these children. [7],[8] Increased intracranial pressure leading to optic atrophy may occur, which can produce blindness if the condition is not treated.

Management of Crouzon disease is multidisciplinary and early diagnosis is important. In the first year of life, it is preferred to release the synostotic sutures of the skull to allow adequate cranial volume, thus allowing brain growth and expansion. Skull reshaping may need to be repeated as the child grows to give the best possible results. [2],[8] If necessary, midfacial advancement and jaw surgery can be done to provide adequate orbital volume and reduce the exophthalmoses to correct the occlusion to an appropriate functional position and to provide for a more normal appearance. Prognosis depends on malformation severity. [2],[8]

Prophylactic dental care is essential. Some teeth may need to be extracted to relieve crowding as the child develops. Functional space maintainer can also be used. Placement of orthodontic braces to expand the palate and align the teeth is often required. Preventive regimen consists of regular follow-up.

Speech therapy can help children learn to communicate. Supportive treatment includes special education for children with mental retardation. People with this syndrome usually have a normal lifespan.

Our patient reported late with the syndrome and was never treated for it. Her oral hygiene was compromised owing to her mental retardation and lack of awareness on part of the parents. To conclude, Crouzon syndrome should be managed as early as possible, as it results in poor cosmetic appearance and results in other complications like mental retardation, airway obstruction, and decreased visual acuity as the age advances.

References

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2Cohen MM Jr. Craniosynostosis update 1987. Am J Med Genet Suppl 1988;4:99-148.
3Gorlin RJ, Cohen NM Jr, Hennekam R. Syndromes of head and neck. 4 th ed. New York: Oxford University Press; 2001. p. 658-9.
4Pharaoh W. Oral radiology principles and interpretation. 5 th ed. Mosby: Elsevier; 2005.
5Fries PD, Katowitz JA. Congenital craniofacial anomalies of ophthalmic importance. Surv Ophthalmol 1990;35:87-119.
6Hlongwa P. Early orthodontic management of Crouzon Syndrome: A case report. J Maxillofac Oral Surg 2009;8:74-6.
7Crouzon LE. Dysostose cranio-faciale héréditaire. Bulletin de la Société des Médecins des Hôpitaux de Paris 1912;33:545-55.
8Jarund M, Lauritzen C. Craniofacial dysostosis: Airway obstruction and craniofacial Surgery. Scand J Plast Reconstr Surg Hand Surg 1996;30:275-9.