|Year : 2013 | Volume
| Issue : 2 | Page : 86-89
Imaging in the diagnosis of a rare anomaly: Cleidocranial dysplasia
Chandramani B More1, Mansi Tailor1, Abhishek Darjee2, Saurabh Varma1
1 Department of Oral Medicine and Radiology, K. M. Shah Dental College and Hospital, Piparia, Vadodara, Gujarat, India
2 Department of Orthopedics, SBKS Medical College and Research Institute, Sumandeep Vidyapeeth University, Piparia, Vadodara, Gujarat, India
|Date of Submission||08-Dec-2012|
|Date of Acceptance||15-Aug-2013|
|Date of Web Publication||15-Oct-2013|
Chandramani B More
Department of Oral Medicine and Radiology, K.M.Shah Dental College and Hospital, Sumandeep Vidyapeeth University, Piparia, Vadodara - 391 760, Gujarat
Source of Support: None, Conflict of Interest: None
Cleidocranial dysplasia (CCD) is a rare autosomal dominant and developmental anomaly of skeleton characterized by generalized dysplasia of the bones and teeth. CCD is caused by mutation of transcription factor RuNx2, although 40% of the cases appear spontaneously with no apparent genetic cause. The disorder presents with partial or complete absence of clavicles, open anterior fontanelle, and cranial sutures, presence of multiple wormian bones, short stature, wide pubic symphysis, short middle phalanges of the 5 th finger, over retained deciduous teeth, multiple impacted permanent and supernumerary teeth and various other abnormalities. The frequency of this disorder is one/million individuals. Early diagnosis of CCD is essential for initiating the appropriate treatment approach. In confirmed cases, genetic counseling for family planning should certainly be advised. Because of its rarity, we report the classical case of CCD, with an emphasis on the importance of clinical and radiographic findings.
Keywords: Cleidocranial dysplasia, hypoplastic clavicle, impacted permanent teeth, impacted supernumerary teeth, open fontanelle, RuNx2, wormian bones
|How to cite this article:|
More CB, Tailor M, Darjee A, Varma S. Imaging in the diagnosis of a rare anomaly: Cleidocranial dysplasia. Indian J Oral Sci 2013;4:86-9
|How to cite this URL:|
More CB, Tailor M, Darjee A, Varma S. Imaging in the diagnosis of a rare anomaly: Cleidocranial dysplasia. Indian J Oral Sci [serial online] 2013 [cited 2019 Oct 17];4:86-9. Available from: http://www.indjos.com/text.asp?2013/4/2/86/119924
| Introduction|| |
Cleidocranial dysplasia (CCD) is also known as Marie-Sainton disease, Scheuthauer Marie-Sainton syndrome, mutational dysostosis, and cleidocranial dysostosis.  It is a rare dominantly inherited autosomal bone disease with a wide range of expressivity, affecting the skeletal, and dental system. It primarily affects the bones undergoing intra-membranous ossification, especially skull, clavicles, and flat bones hence the term "cleidocranial". Furthermore, later on it was known that bones of endochondral ossification are also affected and hence, it is a generalized disorder of many skeletal structures.  CCD was first described by Pierre Marie and Paul Sainton in 1898, since then, very few cases have been documented in the medical literature.  It is characterized by either absence of clavicles (10%cases) or hypoplastic clavicles that allow a patient to move the shoulders upto the medial plane of the body without any discomfort. 
The exact cause is not known. The disorder is frequently but not necessarily hereditary and is transmitted by either parent to sons or daughters. However, spontaneous mutation occur quite frequently and some contend that the disease is due to a defect in the germ plasm or injury of the ovum.  It is thought that CCD is usually caused by a mutation of the RuNx2 gene (core binding factor-1), located at chromosome 6p21.This gene encodes a protein necessary for the correct functioning of osteoblast cells. However, 40% of the cases of CCD appear spontaneously with no apparent genetic factor.  This gene is also necessary for tooth development and is one of the key mesenchymal factor that influences tooth morphogenesis and subsequent differentiation of ameloblasts and odontoblasts. 
CCD is a relatively uncommon disorder with prevalence of one per million individuals.It affects both males and females equally.  Clinically, the diagnosis is often made at birth but may not occur until later, when persistence of the widely open anterior fontanels and sutures or short stature incites parental concern. Individuals with this disorder present with some or all of very characteristic features.  Many CCD patients have the following triad of lesions: Multiple impacted permanent and supernumerary teeth; partial or complete absence of the clavicles; and open sagittal sutures and fontanelle.This triad is considered to be pathognomonic for diagnosis of CCD. 
Because of its rarity, we report the classical case of CCD, with an emphasis on the importance of clinical and radiographic findings in diagnosing the condition.
| Case Report|| |
A 20 year old male patient reported to the department of Oral Medicine for oral check-up. The patient had short stature, thin built and had macrocephaly, frontal bossing, hypertelorism, depressed nasal bridge, long neck and mid-facial hypoplasia [Figure 1]a. The most striking feature was an approximation of both shoulders near midline [Figure 1]b. The intra-oral examination revealed a narrow high arched palate, over retained deciduous teeth, and few missing permanent teeth [Figure 1]c. Patient had 24 teeth present in the oral cavity. His intelligence was normal and systemic history was unremarkable. The family history was non-contributory.
|Figure 1: (a) Clinical photograph showing frontal bossing, depressed fontanel region, depressed nasal bridge, and broad base of nose. (b) Clinical photograph showing hypermobility of shoulders, (c) Clinical photograph showing partial anodontia|
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The panoramic radiograph [Figure 2]a revealed multiple impacted permanent and supernumerary teeth in the incisor and bicuspid regions of the maxilla and mandible. A total of 25 teeth were impacted. The majority of the impacted supernumerary teeth mimicked premolar tooth. The ascending ramus of the mandible appeared narrow, with nearly parallel borders, and coarse trabeculation. The coronoid process appeared slender and pointed. The antero-posterior view [Figure 2]b, lateral skull [Figure 2]c, and paranasal sinus view [Figure 2]d, showed open sutures of the skull, large fontanel, multiple wormian bones, and hypoplastic maxillary, and frontal sinus. Chest X-ray [Figure 3]a revealed a bell shaped rib-cage and hypoplastic and discontinuous clavicles. Pelvic radiograph [Figure 3]b showed widening of the pubic symphyseal space. Hand-wrist radiograph [Figure 3]c showed anomalies in metacarpals II and V. Laboratory investigations showed normal serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone, thyroid function tests and vitamin D levels.
|Figure 2: (a) Panoramic radiograph showing over retained deciduous teeth, multiple impacted permanent and supernumerary teeth. (b) Postero-anterior view showing open sutures, large fontanel and wormian bones. (c) Lateral skull radiograph showing hypoplasia of mid-facial bones, open sutures, wormian bones and metopic sutures. (d) Postero-anterior waters view showing open sutures and fontanel, hypoplastic paranasal sinuses, and Arnold head|
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|Figure 3: (a) Chest radiograph showing bell shaped rib-cage, oblique ribs and hypoplastic, and discontinuous clavicles. (b) Pelvic radiograph showing widening of the pubic symphyseal space and the "chef's hat" appearance of the femoral head. (c) Hand wrist radiograph showing anomalies in metacarpals II and V|
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Based on clinico-radiographic findings, a final diagnosis of CCD was made. Patient is currently being treated by a team comprising of oral diagnostician, orthodontists, and oral surgeon, giving prime consideration to growth and development of the facial structures, esthetics along with psychological support.
| Discussion|| |
CCD patient will present with short stature, thin built, macrocephaly, brachycephaly, prominent forehead, frontal, parietal and occipital bossing (Arnold head), hypertelorism, prominent orbital ridges, depressed nasal bridge, broad base of the nose, mid-facial hypoplasia, relative mandibular prognathism, small and angular face, long neck, drooping shoulder, hypermobility of shoulders, narrow chest, tapering fingers, short and broad thumbs, asymmetrical finger length, subnormal intelligence quotient, respiratory distress, growth retardation, recurrent sinus abnormalities, occurrence of syringomyelia, otitis media, conductive deafness, psychological trauma due to unpleasant smile, narrow high arched palate, delayed eruption of permanent teeth, multiple over retained primary teeth, dental crowding, malocclusion, and enamel hypoplasia. ,,,,, Histologically, the affected teeth shows irregularly arranged dentinal tubules, complete absence of cellular cementum and an increase in the amount of acellular cementum of the roots. 
Various radiographs or imaging modalities such as panoramic, antero-posterior skull, paranasal sinus view, lateral cephalogram, PA chest, pelvic, hand-wrist, vertebral radiograph and computed tomograms are useful aid in the diagnosis of CCD. 3D computed tomography of the cranium in patients with CCD is beneficial because it clearly delineates the open fontanel, unlike the antero-posterior view, in which the open fontanel is superimposed on the occipital bone.  The radiographic features of CCD include open skull sutures, metopic sutures, open anterior fontanel, multiple wormian bones, small sphenoid bones, hypoplastic maxilla and zygomatic bone, occasional absence of the parietal bone, delayed union of the mandibular symphysis, poor/absent pneumatization of paranasal, frontal and mastoid sinuses, aplastic or hypoplastic clavicle, hypoplastic scapulae, hypoplasia of the pelvis, brachydactyly, multiple cone-shaped epiphyses, short middle phalanges of the 5 th finger, anomalies of tarsal, metatarsal, carpal, and metacarpal II and V bones, epiphyseal lines in the long bones may be found on maturity, cervical or thoracic vertebral defects, supernumerary ribs, bell shaped rib-cage, thoracic, and lumber scoliosis, kyphosis or lordoisis, spina bifida occulta, a wide pubic symphyseal space, hypoplastic iliac wings, widened sacroiliac joints with a "chef's hat" appearance of the femoral head. ,,,,
The various features that are evident on dental and panoramic radiographs are multiple over retained primary teeth, impacted permanent teeth, multiple impacted supernumerary teeth particularly in mandibular premolar and maxillary anterior regions, multiple unerupted abnormal teeth, dental crowding and malocclusion, enamel hypoplasia, crown and root abnormalities, crypt formation around impacted teeth, the anterior border of the mandibular ramus is usually parallel to the posterior border, and the coronoid process is slender, pointed, and directed upward and backward; thin zygomatic arch with a severe downward tilt, small or absent maxillary sinuses, coarse trabeculation of the mandible, cyst formation with supernumerary teeth mainly in the premolar region, striated and hyperostotic alveolar bone and increased density of the alveolar crestal bone over unerupted teeth. ,, The unerupted teeth are frequently displaced and are oblique or horizontally placed in the jaws and sometimes completely inverted. , In addition, Milhorn and Austin reported the occurrence of geminated teeth, monstrosities in size and shape of dental system. The roots of the impacted and unerupted teeth are frequently curved and disto-verted.  An exciting fact is that most of the clinico-radiographic features in our case involved the cranio-maxillo-mandibular complex.
The differential diagnosis of CCD includes Crane-Heise syndrome, cranio-facial dysostosis, pycnodysostosis, Yunis Varon syndrome, hypo-hidrotic ectodermal dysplasia, focal dermal hypoplasia, Apert syndrome, hypophosphatasia, etc., The common complications of CCD include pesplanus, genu velgum, shoulder and hip dislocation, recurrent sinus infections, upper airway complications, recurrent ear infection, hearing loss, dental caries, osteomyelitis of the mandible or maxilla, respiratory distress in early infancy. , A narrow pelvis may necessitate cesarean section in the pregnant female. However, even with these potential complications, the life span in such patients is normal. 
Molecular genetic analysis is an indispensable diagnostic tool for early detection in cases where CCD is suspected.  CCD has shown biochemical signs of hypophosphatasia including decreased levels of serum alkaline phosphatase.  However, our patient showed normal alkaline phosphatase with no hypophosphatasia.
The treatment planning for patients with CCD is complicated by the number of factors and largely depends on both the chronological and dental age of the patient. A team approach for management of dental abnormalities on a long-term basis is necessary. The overall goal is to provide anesthetic facial appearance and functional occlusion along with a psychological support.  In confirmed cases, genetic counseling for family planning should certainly be advised. 
| Conclusion|| |
The clinical findings of CCD, although present at birth, are often either missed or diagnosed at a much later time. The timing of diagnosis is not only important for choosing an appropriate treatment plan, but also in attaining a successful result. This condition is of clinical significance to every dentist due to the involvement of the facial bones, altered eruption patterns and multiple supernumerary teeth. The radiographic images of the jaw and skull are important tools for the diagnosis of CCD.
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[Figure 1], [Figure 2], [Figure 3]