Abstract
BackgroundCleidocranial dysplasia (CCD) is a rare congenital autosomal dominant skeletal disorder. The disorder is caused by heterozygosity of mutations in human RUNX2, which is present on the short arm of chromosome 6p21. The incidence of CCD is one per million births. CCD appears spontaneously with no apparent genetic cause in approximately 40% of affected patients, and one in three patients has unaffected parents. The most prevalent features associated with CCD are aplastic or hypoplastic clavicles, supernumerary teeth, failed eruption of permanent teeth, and a hypoplastic maxilla.Case presentationA 13-year-old Caucasian boy presented with a chief complaint of delayed eruption of the permanent anterior teeth. The patient was subsequently diagnosed with CCD based on the clinical examination, panoramic X-ray, anterior-posterior and lateral cephalogram, and chest radiograph findings. The details of this case are herein reported because of the extremely low incidence of this disorder.ConclusionsCCD is of clinical importance in dentistry and medicine because it affects the bones and teeth and is characterized by many changes in skeletal patterning and growth. Particularly in dentistry, CCD is of great clinical significance because is associated with delayed ossification of the skull sutures, delayed exfoliation of the primary teeth, lack of permanent teeth eruption, multiple supernumerary teeth, and morphological abnormalities of the maxilla and mandible. Patients with CCD seek treatment mainly for dental problems. Knowledge of the pathogenesis, clinical characteristics, and diagnostic tools of CCD will enable clinicians to render the appropriate treatment to improve function and aesthetics. Early diagnosis of CCD is crucial for timely initiation of an appropriate treatment approach.
Highlights
Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant skeletal disorder
In dentistry, CCD is of great clinical significance because is associated with delayed ossification of the skull sutures, delayed exfoliation of the primary teeth, lack of permanent teeth eruption, multiple supernumerary teeth, and morphological abnormalities of the maxilla and mandible
The disorder is characterized by hypoplasia or aplasia of the clavicles, delayed closure of the fontanelles, supernumerary teeth, short stature, and other changes in skeletal patterning and growth [1,2,3]
Summary
Knowledge of the clinical characteristics, family history, and diagnostic tools for CCD will enable the clinicians to achieve an early diagnosis and implement appropriate treatment to improve function and aesthetics. Molecular genetics analysis can provide an absolute verification of the diagnosis of CCD and allow for identification of the responsible gene. Absolute verification of the diagnosis of CCD can only be obtained by molecular genetic analysis [1,2,3]. A diagnosis of CCD was made for the first time in this patient and was based on the clinical facial and oral examination, panoramic X-ray, anterior-posterior and lateral cephalogram, and chest radiograph findings. Diagnosis is crucial to timely initiation of an appropriate treatment approach [3,19].
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