March 2015  Vol. 4, No.

 1  Postgraduate Medical Journal of Ghana 
 

CASE REPORT

CLEIDOCRANIAL DYSOSTOSIS- A CASE REPORT

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

Abstract
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
bite.
Corresponding Author: Isaac Kwasi Nuamah Almost all his deciduous teeth were retained. The
only permanent teeth present were the first permanent
E-mail: [email protected] 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

 
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March 2015  YEBOAH‐AGYAPONG M A et al  Cleidocranial Dysostosis    

Figure 4: Lateral skull radiograph showing open skull

sutures, large fontanelles, and underdeveloped
paranasal sinuses.

Figure 1: Shows the apposition of the shoulders close

to the mid-line.

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.
Plain radiographs of the patient’s jaws The lateral skull view also confirmed the skeletal
(Orthopantomogram [OPG] and lateral skull views) III jaw relationship. 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, the skeletal 5). These radiographic and clinical features confirmed
class III appearance and the ability to bring his our diagnosis of CCD.
shoulders close to the midline with ease. Management: The patient and the parents were
reassured. Dietary advice and oral hygiene instructions
were reinforced. Composite restorations of his carious
teeth as well as veneers for the discoloured teeth were
carried out fig 6. Badly damaged primary teeth were
extracted and where there was a high chance for
eruption of the permanent teeth, the corresponding
primary teeth were extracted to make way for their
permanent counterparts. 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. future date.
The patient was also referred to the ENT,
The OPG and lateral skull views showed several teeth Orthopedics and medical departments for further
impacted and unerupted in both jaws. Some of these investigations. These further examinations and
were supernumeraries. (Fig. 3, 4). evaluations did not reveal any new clinical features.

 
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March 2015  Vol. 4, No. 1  Postgraduate Medical Journal of Ghana 
 
abnormally high, and, occasionally, a cleft palate has
been reported. Ocular hypertelorism and mild
exophthalmus are seen16.
In the hands and the feet, various abnormalities
have been found, the most constant and curious being
the presence of epiphyses at both ends of the
metacarpals and metatarsals, particularly of the second
and fifth, and an abnormally long second metacarpal.
The intermediate phalanges may be small. Association
with mental retardation has been shown, but most
patients apparently possess normal intelligence. These
Figure 6: Appearance of dentition after composite individuals have no significant physical handicap16.
restorations. The eruption of primary teeth is normal or sometimes
delayed, 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 presence of
and Paul Sainton in 189811, 12. 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, namely the bones of the lamina. Dental manifestations include delayed eruption
skull, clavicles and other flat bones, hence the name or failure of eruption of the primary dentition. Delayed
cleidocranial. 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. The
The prevalence of CCD is one per million of the significant variability in clinical expression of this
population. It is inherited as autosomal dominant trait syndrome reflects a degree of phenotypic
with complete penetrance and variable expressivity8. 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, the face, the intra-oral
other skeletal dysplasias. It may be discovered at any features (mainly the dentition), clavicles, including
age, but the cranial deficiencies may be noticed at shoulder mobility.
birth. There is no gender predilection. The defect often Our patient had most of the classic features.
appears in several successive generations14, 15, 16 Our patient had an open anterior fontanelle,
The most characteristic and pathognomonic feature hypertelorism, flared alae nasi, a relative mandibular
of this disorder is hypoplasia or aplasia of the clavicles, prognathism, an anterior open bite, several carious and
which results in hypermobility of the shoulders discoloured teeth, shoulders that nearly met in the mid-
allowing the patients to approximate the shoulders in line, pes planus and a notch in the hard palate.
the midline. Muscle attachments to the clavicles may Radiographically, a PA chest radiograph
also be dysplastic, leading to distortion of the neck. confirmed his clavicles were nearly missing, and an
Defects of the cervical and lumbar vertebrae are OPG showed he had several supernumerary teeth,
included in the clinical findings. Absence of the pubic several impacted and unerupted teeth, a maxillary
symphysis and hypoplasia of the pelvis is common in antrum nearly filled with unerupted teeth and skeletal
females. Postural defects and spinal curvature are mandibular prognathism or maxillary hypoplasia.
common. Frequently, genuavalga and pes planus are The patient’s treatment is restricted in our
found in children younger than 5 years of age. In our environment. Quality of life is such as the facilities we
case our patient had pes planus. They are of moderately have in our health service will allow. There was a huge
short stature14, 15, 16 smile after the initial treatment. There are plans to
Delayed ossification of the cranial sutures and involve other specialists to provide an integrated team
fontanelles occurs, and may remain open throughout service, made up of a pedodontist, an orthodontist, and
life. The skull is usually large and broad. an oral and maxillofacial surgeon, however we could
The face appears small in relation to the cranium not confirm this with the parents. No doubt aesthetic
with hypoplastic maxillary, lacrimal, nasal, and improvement brought a smile to their face and to some
zygomatic bones. The paranasal sinuses may be extent improves their quality of life.
underdeveloped. The bones of the middle part of the
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