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March 2015  Vol. 4, No.

 1  Postgraduate Medical Journal of Ghana 


Yeboah-Agyapong M A, 2Nuamah I K, 1Horgli Y.A
37 Military Hospital Accra, 2Korle Bu Teaching Hospital Accra

Objective: First report of cleidocranial dysostosis several unerupted permanent teeth and several retained
(CCD), a rare genetic disorder, in Ghana. teeth most of which were discoloured which was why
Case report and intervention: The condition presented he was seen at the Dental department. After restoration
in a 13 year old boy with most of the classical features. of some of these teeth the patient was very satisfied.
He had cranial features in the form of open fontanelles, Conclusion: Though the definitive treatment in these
underdeveloped paranasal air sinuses and patients can be sophisticated major craniofacial
hypertelorism. Thoracic features were severely surgery, early restoration of malformed teeth can help
underdeveloped clavicles which allowed him to appose ease patient’s anxiety and improve quality of life.
both shoulders in the midline. He had an open bite,

Key Words: Cleidocranial dysostosis, Ghana, genetic, disorder, jaws, dentition

Introduction Cases have been published in South Africa9 and
Cleidocranial dysostosis (CCD) is a rare Nigeria10 but to the best of our knowledge, this is the
congenital disorder of bone and dentition1, 2, 3. Also first reported case of the condition in Ghana
called cleidocranial dysplasia, mutational dysostosis
and Marie-Sainton disease4, the condition is mainly Case Report
characterized by clavicular aplasia or deficient A 13 year-old male presented to the Dental
formation of the clavicles, delayed and imperfect Surgery clinic, 37 Military Hospital, Accra, with a
ossification of the cranium, moderately short stature, complaint of discoloured and carious teeth in both
and a variety of other skeletal abnormalities5 The upper and lower jaws which had been present since
principal oral manifestations are a delayed exfoliation childhood. He requested improvement in his
of primary teeth, delayed or multiple impactions of the appearance and the colour of his teeth.
permanent dentition, and multiple impacted His only relevant medical history was the surgical
supernumerary teeth6 removal of a sixth finger next to the right little finger
It may be inherited as an autosomal dominant which was carried out under local anaesthetic without
pattern or occur as de novo mutation of the affected complications a “few” years previously. He also said
gene. The gene has been mapped on the short arm of he could approximate his shoulders to meet in the
chromosome 6p21, core binding factor a-1 (CBFA1). midline
This disorder can be caused by a mutation in the He had never visited a dental surgeon in the past.
transcription factor CBFA1 (RUNX2). The CBFA1 There was no social or family history of note. The
gene controls differentiation of precursor cells into patient’s stature was small for his age but otherwise
osteoblasts and is, therefore, essential for both looked generally well. Initial examination focused on
membranous and endochondral bone formation. This the head and neck.
may be related to delayed ossification of the skull, The site of the anterior fontanelle was soft. He had
teeth, pelvis, and clavicles7 Diagnosis of CCD is hypertelorism and flaring of alae nasi.
usually based on clinical and radiographic findings and The skeletal jaw relationship was class III with a
affected individuals may live a normal life4,5,8. protrusive mandible and an anterior open
Corresponding Author: Isaac Kwasi Nuamah Almost all his deciduous teeth were retained. The
only permanent teeth present were the first permanent
E-mail: molars. There was discolouration of several teeth in
Telephone: +233 24 201 3541, both jaws. Some of the teeth had caries. There was a
Conflict interest: none declared   notch in the midline of the palate which otherwise
looked flat. On further examination he could
demonstrate the almost meeting in the midline of his
two shoulders with ease. He also had pes planus. Fig 1


shoulders close to the midline with ease. The OPG and lateral skull views showed several teeth Orthopedics and medical departments for further impacted and unerupted in both jaws. These further examinations and were supernumeraries. the skeletal 5). 4). Management: The patient and the parents were reassured. Composite restorations of his carious teeth as well as veneers for the discoloured teeth were carried out fig 6. evaluations did not reveal any new clinical features. Figure 5: Chest radiograph (PA View) of the patient showing thinning and hypoplasia of the clavicles and Figure 2: Presence of pes planus in the patient bell shaped rib-cage. Badly damaged primary teeth were extracted and where there was a high chance for eruption of the permanent teeth.   39 . 3. The patient was also referred to the ENT. These radiographic and clinical features confirmed class III appearance and the ability to bring his our diagnosis of CCD. (Fig.March 2015  YEBOAH‐AGYAPONG M A et al  Cleidocranial Dysostosis     Figure 4: Lateral skull radiograph showing open skull sutures. and underdeveloped paranasal sinuses. Dietary advice and oral hygiene instructions were reinforced. Plain radiographs of the patient’s jaws The lateral skull view also confirmed the skeletal (Orthopantomogram [OPG] and lateral skull views) III jaw relationship. Some of these investigations. large fontanelles. Future orthodontic repositioning of some of the teeth and artificial replacement of missing teeth as well as orthognathic Figure 3: Orthopantomogram view of the jaws surgery was discussed and this will be considered at a showing several unerupted teeth. the corresponding primary teeth were extracted to make way for their permanent counterparts. The chest radiograph showed and posterior.anterior radiographs of the chest were clavicular hypoplasia and bell shaped rib-cage (Figure requested on account of the missing teeth. Figure 1: Shows the apposition of the shoulders close to the mid-line. future date.

36:177– are prominent. a PA chest radiograph also be dysplastic. nasal. 1  Postgraduate Medical Journal of Ghana    abnormally high. and life. namely the bones of the lamina. The The prevalence of CCD is one per million of the significant variability in clinical expression of this population. Cleidocranial dysplasia: clinical and symmetrical. In our environment. and occipital bones molecular genetics. 16 smile after the initial treatment. occasionally. The eruption of primary teeth is normal or sometimes delayed. These Figure 6: Appearance of dentition after composite individuals have no significant physical handicap16. causing a 2. an anterior open bite. Sebald E . Lee B. The defect often Our patient had most of the classic features. shoulders that nearly met in the mid- allowing the patients to approximate the shoulders in line. hence the name or failure of eruption of the primary dentition. The intermediate phalanges may be small. but the exfoliation of primary teeth is always Discussion: The descriptive term delayed and may be due to the failure of most cleidocranialdysostosis was first used by Pierre Marie permanent teeth to erupt17. the midline. but most patients apparently possess normal intelligence. Postural defects and spinal curvature are mandibular prognathism or maxillary hypoplasia. There was a huge short stature14. The frontal. Wilcox W . a cleft palate has been reported. particularly of the second and fifth. Quality of life is such as the facilities we case our patient had pes planus. underdeveloped. an oral and maxillofacial surgeon. however we could The face appears small in relation to the cranium not confirm this with the parents. a maxillary symphysis and hypoplasia of the pelvis is common in antrum nearly filled with unerupted teeth and skeletal females. several carious and which results in hypermobility of the shoulders discoloured teeth. The most characteristic and pathognomonic feature hypertelorism. leading to distortion of the neck. The maxillary sinuses may be small or 182 missing. Dysregulation of chondrogenesis in (a relative mandibular prognathism). included in the clinical findings. clavicles. made up of a pedodontist. the intra-oral other skeletal dysplasias. Hesse was first to describe in detail the tooth development has been reported in association association of the defects of dentition and jaws13 with malocclusion and supernumerary teeth15. and improvement brought a smile to their face and to some zygomatic bones. The bones of the middle part of the face are also less well developed than the cranial References bones. S. Frequently. No doubt aesthetic with hypoplastic maxillary. No. and may remain open throughout service. 12. 4. Zheng Q. prognathism. including age. a relative mandibular of this disorder is hypoplasia or aplasia of the clavicles. the face. It polymorphism16 is most likely underdiagnosed because of the relative Confirmation of the diagnosis was based on the lack of medical complications in comparison with examination of the cranium. Mundlos. The presence of and Paul Sainton in 189811. The skull is usually large and broad. and. parietal. flared alae nasi. Delayed cleidocranial. and an Defects of the cervical and lumbar vertebrae are OPG showed he had several supernumerary teeth. They are of moderately have in our health service will allow. The palate may be   40 . 15. birth. an orthodontist. and an abnormally long second metacarpal. and the maxilla is underdeveloped. Defects in the skull appear to be always 1. confirmed his clavicles were nearly missing. The condition was supernumerary teeth has been hypothesized to result originally thought to involve bones of from incomplete or delayed resorption of the dental intramembranous origin only. restorations. There are plans to Delayed ossification of the cranial sutures and involve other specialists to provide an integrated team fontanelles occurs. clavicles and other flat bones. Muscle attachments to the clavicles may Radiographically. J Med Genet 1999. Association with mental retardation has been shown. It is inherited as autosomal dominant trait syndrome reflects a degree of phenotypic with complete penetrance and variable expressivity8. lacrimal. but the cranial deficiencies may be noticed at shoulder mobility. genuavalga and pes planus are The patient’s treatment is restricted in our found in children younger than 5 years of age. pes planus and a notch in the hard palate. Class III skeletal relationship and a maxillary retrusion Krakow D . Zhou G . appears in several successive generations14. There is no gender predilection. 15. the most constant and curious being the presence of epiphyses at both ends of the metacarpals and metatarsals. various abnormalities have been found. In the hands and the feet. Ocular hypertelorism and mild exophthalmus are seen16. It may be discovered at any features (mainly the dentition). The paranasal sinuses may be extent improves their quality of life. 16 Our patient had an open anterior fontanelle. Absence of the pubic several impacted and unerupted teeth. common. Dental manifestations include delayed eruption skull.March 2015  Vol.

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