American Journal of Medical Case Reports, 2017, Vol. 5, No. 11, 270-273 Available online at http://pubs.sciepub.com/ajmcr/5/11/1 ©Science and Education Publishing DOI:10.12691/ajmcr-5-11-1 A 9-year-old Saudi Boy with Cleidocranial Dysplasia: A Case Report Rabab Ali Jassim AL Buainain 1 , Yasin Alavi Aruveetil 2 , Faisal Alsineedi 2 , Abdullah Faraj Alshammari 3 , Hussain Gadelkarim Ahmed 4,* 1 Saudi Pediatric Dentistry Program, Dammam Medical Complex, Dammam, Kingdom of Saudi Arabia (KSA) 2 Department of dentistry, King Fahd Military Medical Complex, Dhahran, KSA 3 Department of Dentistry, University of Hail, KSA 4 College of Medicine, University of Hail, KSA *Corresponding author: hussaingad1972@yahoo.com Abstract Cleidocranial dysplasia (CCD) is an uncommon disorder associated with a genetic disorder mainly causing dysplasia of bones and teeth with autosomal dominant inheritance pattern, which has an extremely varied presentation. The dental indicators are principally delayed exfoliation of primary teeth and delayed eruption of permanent teeth, and numerous impacted supernumeraries. This article represent a 9 years old Saudi boy case of CCD and illustrates the clinical and radiological features of this patients. In this case the early diagnosis of the condition was not associated with proper orientation of the dental treatment to offer better quality of life to patient. Keywords: Cleidocranial dysplasia, dental treatment, Saudi Cite This Article: Rabab Ali Jassim AL Buainain, Yasin Alavi Aruveetil, Faisal Alsineedi, Abdullah Faraj Alshammari, and Hussain Gadelkarim Ahmed, “A 9-year-old Saudi Boy with Cleidocranial Dysplasia: A Case Report.” American Journal of Medical Case Reports, vol. 5, no. 11 (2017): 270-273. doi: 10.12691/ajmcr-5-11-1. 1. Introduction Cleidocranial dysplasia (CCD) is an uncommon but well-known genetic skeletal condition, characterized by dental anomalies and bone abnormalities [1]. The disease is triggered by mutation in the gene RUNX2 (CBAF1), located on the short arm of chromosome 6 [2,3]. The causing gene, RUNX2 codes for a core-binding transcription factor protein (CBFA1), which is intricate in the differentiation of osteoblasts and bone construction [4-6]. RUNX2 has an essential role in the epithelial-mesenchymal communications that control progressive tooth morphogenesis and histo- differentiation of the epithelial enamel organ. Individuals affected with CCD have a distinctive facial look with a bulky forehead, hypertelorism, and midfacial hypoplasia [4]. Overall health is commonly good and the intellect is unaffected. The adversative overall health effects of CCD are generally not very severe or debilitating and there is no accompanying deficiency in cognitive or intellectual functioning in such patients [7]. CDD is a skeletal dysplasia described by delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and multiple dental abnormalities. Manifestations may differ among persons in the same family. The most noticeable clinical results are abnormally large, wide-open fontanels at birth that may stay open throughout life; mid-face retrusion; abnormal dentition, comprising delayed eruption of secondary dentition, failure to shed the primary teeth, supernumerary teeth with dental crowding, and malocclusion; clavicular hypoplasia bring about thin, leaning shoulders that can be opposed at the midline; and hand defects such as brachydactyly, tapering fingers, and short, broad thumbs. Persons with CCD are shorter than their natural sibs and are more to be expected to have other skeletal/orthopedic problems such as pes planus, genu valgum, and scoliosis. Other medical problems comprise repeated sinus infections and other upper-airway problems, repeated ear infections, high incidence of cesarean section, and mild degree of motor delay in children under age of five years [8]. Diagnosis of CCD is rely on clinical and radiographic results that contain imaging of the cranium, thorax, pelvis, and hands. RUNX2 (CBFA1) is the only gene in which mutation is identified to be associated with CCD. Molecular genetic testing of RUNX2 detects pathogenic variants in 60%-70% of patients with a clinical diagnosis of CCD. This article reports the case of a 9 year old child diagnosed with CCD after birth. The aim is to provide the health team with update measures toward dental management of patient with CCD diagnosis and dental treatment. 2. Case Presentation 2.1. Chief Complaint and Medical History A 9 years old Saudi male attends Pediatric Dental Clinics in Dammam Medical Complex with his mother. The main concerns were about delay in the eruption of permanent teeth and multiple carious teeth. The patient