Description
In 1912, a French neurologist, Octave Crouzon (1874–1938), first described the hereditary syndrome of craniofacial synostosis, which includes a triad of skull deformities, facial anomalies and exophthalmos and is now known as Crouzon’s syndrome (CS).1 CS is a rare, congenital craniosynostosis condition resulting from missense mutations in the gene encoding fibroblast growth factor receptor-2.2 The incidence of CS is approximately one in every 25 000 births worldwide.3 CS makes up approximately 4.8% of all cases of craniosynostoses.4 There is no race or sex predilection.5 The disease is characterised by the premature fusion of the coronal and sagittal sutures, which develop within the first year of life. Once the sutures are closed, further development is compromised, leading to midfacial hypoplasia, a shallow orbit and maxillary hypoplasia.6 Intraoral features consist of mandibular prognathism, oligodontia, overcrowding of the upper teeth, macrodontia, cleft lip and palate, peg teeth, widely spaced teeth, V-shaped maxillary dental arch and occasional upper airway obstruction.5 7 CS is distinguishable from other craniosynostosis syndromes (Apert, Pfeiffer and Saethre-Chotzen syndromes) by the absence of hand and/or foot abnormalities.8
In this case report, a female patient in her 20s reported to our tertiary healthcare centre with her mother with the chief complaint of halitosis for the last 6 months. Since the physical appearance of the patient and head size were not normal, the family history and medical history were recorded in detail. No history of any systemic illness or drug allergy was reported by the patient’s mother. In her history, her mother revealed that similar oral and facial features were not present in any of her siblings or close relatives. On extraoral examination, the patient presented with orbital hypertelorism, exophthalmos, strabismus and a depressed nasal bridge (figure 1). In addition, hypoplastic malar process, hypoplastic maxilla, relative mandibular prognathism, short upper lip and long philtrum (figure 2). There was no digital anomaly present. On intraoral examination, a V-shaped maxillary arch, a high-arched palate, bilateral palatal swellings (pseudocleft of palate) and decayed teeth were present (figure 3). Her oral hygiene was poor, with reddish inflamed gingiva, malaligned teeth, reverse overjet, posterior crossbite and anterior open bite (figure 4). Bleeding on probing and generalised mild periodontal pockets were present. The patient presented with macroglossia and a pseudocleft of palate (figure 5). Lateral cephalogram showing deficient maxillary growth with relative mandibular prognathism (figure 6).
Figure 1.
Orbital hypertelorism, exophthalmos, strabismus and depressed nasal bridge.
Figure 2.
Hypoplastic malar process, hypoplastic maxilla, relative mandibular prognathism, short upper lip and long philtrum.
Figure 3.
V-shaped maxillary arch, high arched palate and bilateral palatal swelling (pseudocleft of palate) and decayed teeth.
Figure 4.
Poor oral hygiene with reddish inflamed gingiva, malaligned teeth, reverse overjet, posterior crossbite and anterior open bite.
Figure 5.
Macroglossia and pseudocleft of palate.
Figure 6.
Deficient maxillary growth with relative mandibular prognathism.
Patient’s perspective.
My daughter was referred to tertiary healthcare centre for her treatment. She has been suffering from bleeding while brushing her teeth and bad breath from her mouth for the last 6 months. Since her appearance was different from normal individual, a detailed personal and family history was recorded by the healthcare staffs. I was informed about her diagnosis and proper treatment plan. Our consent was recorded. With treatment, she recovered completely. We were very happy with the treatment and care.
Learning points.
Crouzon’s syndrome (CS) is a rare, congenital craniosynostosis which is extraorally characterised by the presence of orbital hypertelorism, exophthalmos, strabismus, depressed nasal bridge, hypoplastic malar process, hypoplastic maxilla, relative mandibular prognathism, short upper lip and long philtrum.
The intraoral feature of CS is a V-shaped maxillary arch with a high-arched palate, bilateral palatal swellings which represent the pseudocleft of palate and occasionally with macroglossia.
Radiographically, CS presents with deficient maxillary growth with relative mandibular prognathism.
Footnotes
Contributors: The following authors were directly involved in the patient’s care: RG, ND, The following authors were not directly involved in the patient’s care and they contributed to the manuscript: PR and NS. The following author is the clinician in charge of the clinical care of the patient, who supervised the preparation of the manuscript, was responsible for obtaining informed consent from the patient/guardian/family members and is responsible for the overall integrity of the content of the manuscript: RG and ND.
Funding: The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.
Competing interests: None declared.
Provenance and peer review: Not commissioned; externally peer reviewed.
Ethics statements
Patient consent for publication
Consent obtained from parent(s)/guardian(s).
References
- 1. Maloth S, Padamashree S, Rema J, et al. Diagnosis of Crouzon’s syndrome. Hong Kong Dent J 2010;7:95–100. [Google Scholar]
- 2. Fries PD, Katowitz JA. Congenital Craniofacial anomalies of ophthalmic importance. Surv Ophthalmol 1990;35:87–119. 10.1016/0039-6257(90)90067-6 [DOI] [PubMed] [Google Scholar]
- 3. Cohen MM, Opitz JM, Reynolds JF, et al. Craniosynostosis update 1987. Am J Med Genet 1988;31:99–148. 10.1002/ajmg.1320310514 [DOI] [PubMed] [Google Scholar]
- 4. Gray TL, Casey T, Selva D, et al. Ophthalmic sequelae of Crouzon syndrome. Ophthalmology 2005;112:1129–34. 10.1016/j.ophtha.2004.12.037 [DOI] [PubMed] [Google Scholar]
- 5. Hlongwa P. Early orthodontic management of Crouzon syndrome: A case report. J Maxillofac Oral Surg 2009;8:74–6. 10.1007/s12663-009-0018-7 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 6. Alam MK, Alfawzan AA, Abutayyem H, et al. Craniofacial characteristics in Crouzon's syndrome: A systematic review and meta-analysis. Sci Prog 2023;106:368504231156297. 10.1177/00368504231156297 [DOI] [PMC free article] [PubMed] [Google Scholar]
- 7. Cohen MM, Kreiborg S. Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods. Clin Genet 1992;41:12–5. 10.1111/j.1399-0004.1992.tb03620.x [DOI] [PubMed] [Google Scholar]
- 8. Regezi JA, Sciubba JJ, Jordan RCK. Oral pathology: Clinical pathologic correlations. London: WB Saunders Company, 1999: 436–7. [Google Scholar]