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CASE REPORT
Year : 2011  |  Volume : 29  |  Issue : 4  |  Page : 315-319
 

Cephalometric analysis of hard and soft tissues in a 12-year-old syndromic child: A case report and update on dentofacial features of Crouzon syndrome


1 Department of Oral Medicine and Radiology, Seema Dental College and Hospital, Rishikesh, Uttarakhand, India
2 Department of Pedodontics and Preventive Dentistry, Karnavati school of dentistry, Ahmedabad, Gujarat, India
3 Madha Dental College, Kundrathur, Chennai, India
4 Department of Orthodontics, Seema Dental College and Hospital, Rishikesh, Uttarakhand, India

Date of Web Publication21-Oct-2011

Correspondence Address:
K Nagaraju
Department of Oral Medicine and Radiology, Seema Dental College and Hospital, Rishikesh, Uttarakhand
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-4388.86378

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   Abstract 

Crouzon syndrome or craniofacial dysostosis is a rare syndrome characterized by craniosynostosis, midfacial hypoplasia and exophthalmia. The abnormalities found in this syndrome change too much from case to case depending on the suture fusion order. We report a case of a 12 year old child and a mother showing variations in the dentofacial tissues clinically and radiographically. Subsequently, the application of digital software [Dolphin Imaging 11] enabled us to solve out the case as Crouzon syndrome by analyzing the skeletal and soft tissue alterations. An update of the effects of this syndrome on various systems and dentofacial features with emphasis on tooth abnormalities is documented.


Keywords: Crouzon syndrome, copper-beaten skull, cephalometrics for orthognathic surgery analysis, Legan analysis, midfacial hypoplasia, tooth abnormalities


How to cite this article:
Nagaraju K, Ranadheer E, Suresh P, Tarun S P. Cephalometric analysis of hard and soft tissues in a 12-year-old syndromic child: A case report and update on dentofacial features of Crouzon syndrome. J Indian Soc Pedod Prev Dent 2011;29:315-9

How to cite this URL:
Nagaraju K, Ranadheer E, Suresh P, Tarun S P. Cephalometric analysis of hard and soft tissues in a 12-year-old syndromic child: A case report and update on dentofacial features of Crouzon syndrome. J Indian Soc Pedod Prev Dent [serial online] 2011 [cited 2019 Aug 22];29:315-9. Available from: http://www.jisppd.com/text.asp?2011/29/4/315/86378



   Introduction Top


Crouzon syndrome (CS) or craniofacial dysostosis is a rare syndromic autosomal dominant craniosynostosis characterized by premature closure of cranial sutures, midfacial hypoplasia, and exophthalmia. [1],[2] The abnormalities found in this syndrome change too much from case to case including variations between members affected of the same family. The suture fusion order and range determine the degree of deformity and inability [3] as demonstrated in our case. Hereby, we report a case of CS affecting a mother and son who presented to the clinic with an unusual facial profile (no classical signs of a particular syndrome) and radiographic findings. A cephalometric analysis was carried out in the child to analyze the hard and soft tissues. Results of the analysis have not only aided us in diagnosing the case as CS but also helped us in planning out the treatment protocol.


   Case Report Top


A 12-year-old normal intelligence child accompanied with his parents came to the Department of Oral Medicine and Radiology for opinion of unerupted permanent teeth. The first clinical sight of a hump on the skull, which on palpation was bony hard, fashioned an interest in the case [Figure 1]. On further clinical examination, downward slanting palpebral fissures, maxillary deficiency, parrot beak nose, hypertelorism [intercanthal distance >38 mm], and unerupted permanent teeth were observed [Figure 1]. In order to elicit the clinical findings, the child was subjected to radiological investigations namely, OPG and PA skull. OPG of the patient revealed multiple over-retained teeth with erupting succedaneous permanent teeth [Figure 2]. Interestingly, the PA skull view demonstrated the copper-beaten appearance characteristic feature seen in craniosynostosis syndrome [Figure 3].
Figure 1: Clinical photographs of scaphocephaly skull with a prominent hump on the skull, downward slanting palpebral fissures, and hypertelorism

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Figure 2: Orthopantomograph of the child showing over-retained deciduous teeth and erupting succedaneous permanent teeth

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Figure 3: Posterioanterior view of the skull showing copper-beaten appearance (black arrows) and a prominent radioopacity, depicting fused sagittal suture (white arrow)

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Our differential diagnosis comprised various craniosynostosis syndromes such as Apert, Crouzon, Pfeiffer, Seathre-Chotzen, and Osteoglophonic dysplasia. [1],[2],[3],[4] The differentiating features with the various syndromes were sorted out [Table 1] and further the mother and father were examined to rule out hereditary features. Clinical examination of patient's mother (41 years) showed over-retained deciduous teeth and multiple missing teeth. So after their consent, radiographs of the mother were taken and so we found out multiple impacted teeth with over-retained deciduous [Figure 4] and mild copper-beaten appearance in the PA skull [Figure 5]. Further, an endocrinal assay for thyroid, parathyroid, and growth hormone along with serological tests (calcium, phosphorous, and alkaline phosphatase) were carried out and the findings were insignificant. An endocrinologist and pediatrician were consulted, and after clinical examination and observing the tests they were in favor of CS.
Figure 4: Orthopantomograph of the mother showing multiple over-retained deciduous teeth (maxillary and mandibular canines, right maxillary second molar) and multiple impacted teeth

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Figure 5: Posterioanterior view of the skull (mother) showing mild copper-beaten appearance (black arrows)

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An extensive search on the PUBMED and MEDLINE was conducted with reviews and case reports of CS, but no article commented on tooth abnormalities (over-retained and impacted). However, on online (Google) search, a radiographic study done by Melero SJ et al. [5] in nine patients of CS confirmed that tooth abnormalities such as over-retained deciduous teeth and impacted teeth were evident in these patients which are in accordance to our present case.

From the pathogenetic point of view, the dentofacial abnormalities observed in CS are due to anterior and posterior cranial base deficiency which further lead to deficiency in the maxilla and orbital proptosis. [6] As both the mother and son presented mild CS findings, a cephalometric analysis of both hard and soft tissues [Figure 6] were carried out (COGS analysis for hard tissues and LEGAN analysis for soft tissues) using the application of Dolphin Imaging and Management solutions 11 (Chatsworth, CA, USA). The statistical results [Table 2] and [Table 3] were significant in the child with posterior cranial base [Ar-PTM] and maxillary deficiency [PNS-ANS] camouflaged with soft tissue alteration [Facial Convexity (G'-Sn-Po') (°)]. An anterior cross bite with class III malocclusion is quite evident in the lateral cephalogram [Figure 6]. By analyzing all the features, patient's parents were informed about the cause of unerupted teeth and was suggested a reverse pull head gear for correcting maxillary deficiency and a waitful watch for the sequential eruption of permanent teeth without the extraction of deciduous teeth.
Figure 6: Hard and soft tissue analysis on lateral cephalogram of the child

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   Discussion Top


The first description of hereditary syndrome of craniofacial dysostosis in a mother and son was given by a French neurologist, Octave Crouzon (1874-1938). [7] The triad composed by cranium deformities, facial anomalies, and exophthalmia, described by Crouzon in 1912, today forms the Crouzon syndrome. CS is a rare genetic disorder accounting for 4.8% of the entire craniosynostosis syndrome with the prevalence of approximately 1 per 25,000 live births worldwide. [1],[7],[8] CS seems to be a familial condition with an autosomal dominant pattern of inheritance. However, 33% to 56% of the CS incidents are not inherited but result from new spontaneous mutations. CS is caused by multiple mutations in the fibroblast growth factor receptor II (FGFR2) on chromosome 10. [9] More than 30 mutations have already been documented in the FGFR2 and concern the CS pathogenesis. [2]

Variability of expression characterizes CS. [1] Clinical presentation of the infants with CS vary in severity ranging from mild presentation with subtle midface features to severe form with multiple fused cranial sutures and marked craniofacial and dental abnormalities. In the present case, both the mother and child manifested with subtle changes clinically (mild hypertelorism) and radiographically (PA skull with copper-beaten appearance) which were not so classical to confirm a diagnosis. So, an alternative aid, i.e., software application was used to analyze the soft and hard tissue changes and henceforth this application has proved to be a prompt aid in diagnosing the syndrome as Crouzon. Till date, only one radiographic study has reported on tooth abnormalities and we are the second to report on the unusual tooth abnormalities such as over-retained deciduous teeth and multiple impacted teeth. [5]

It is important to realize that aside from various systemic features [Table 4], complications secondary to increased intracranial pressure and respiratory obstructions do arise from uncorrected CS. That is why it is important to catch these patients as early as possible. An early detection of this condition followed with a multidisciplinary effort comprising physicians and surgeons from the medical and dental field do play an important role in improving the quality of life of CS patients.

It is fortunate that in the present case both the child and mother were unaware of the syndrome and did not have any complications excepting for unerupted permanent teeth in the child. The cause of unerupted teeth was explained to the parents and they were further informed about its autosomal dominant inheritance pattern and prenatal genetic testing. The treatment protocol for the patient comprised correcting the maxillary deficiency by using reverse pull head gear and waitful watch for the eruption of permanent teeth.


   Conclusions Top


Syndromes of head and neck manifest with variable features ranging from mild to severe changes which can affect the quality of the life in their due course and CS is no exception to it. So, it is necessary to maintain the genetic advising and the detailed study so that the disease is caused at the early stages thus preventing the late diagnostic effects.

 
   References Top

1.Gorlin RJ, Cohen MM, Hennekam RC. Syndromes with craniosynostosis. In Gorlin RJ, Cohen MM, Hennekam RCM, editors. Syndromes of head and neck. 4 th ed. Oxford: Oxford University Press: 2001. p. 654-70.  Back to cited text no. 1
    
2.Arathi R, Sagtani A, Baliga M. Crouzons syndrome: A case report. J Indian Soc Pedod Prev Dent 2007;25:10-2.  Back to cited text no. 2
[PUBMED]  Medknow Journal  
3.Silva SL, Neto FX, Carneiro SG, Palheta AC, Monteiro M, Cunha SC, et al. Crouzons syndrome: Literature review. Int Arch Otorhinolaryngol 2008;12:436-41.   Back to cited text no. 3
    
4.Shankar NV, Ajila V, Kumar G. Osteoglophonic dysplasia: A case report. J Oral Sci 2010;52:167-71.  Back to cited text no. 4
    
5.Melero SJ, Leite MM, Carvalho IM. Dental anomalies in patients carrying the Apert syndrome and the Crouzon syndrome. Salusvita 2005;24:183-93.  Back to cited text no. 5
    
6.Kinch MC, Bixler D, Ward RE. Cephalometric analysis of families with dominantly inherited Crouzon syndrome: An aid to diagnosis in family studies. Am J Med Genet 1998;77:405-11.  Back to cited text no. 6
    
7.Babic GS, Babic RR. Ophthalmological and radiological picture of Crouzon Syndrome - A Case Report. Acta Medica Medianae 2009;48:37-40.  Back to cited text no. 7
    
8.Bowling EL, Burstein FD. Crouzon syndrome. Optometry 2006;77:217-22.  Back to cited text no. 8
[PUBMED]  [FULLTEXT]  
9.Kinch CA. Developmental disturbances of the faces and jaws. In: White SC, Pharoah MJ, editors. Oral Radiology - Principles and Interpretations. 6 th ed. St. Louis, Missouri: Elsevier private India limited; 2009. p. 562-77.  Back to cited text no. 9
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]
 
 
    Tables

  [Table 1], [Table 2], [Table 3], [Table 4]



 

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