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Cleidocranial dysplasia: A rare case report

Journal of Pharmacy and Bioallied Sciences, 2023
Cleidocranial dysplasia (CCD) is a rare hereditary disease of unknown etiology which was previously known as cleidocranial dysostosis. It usually follows an autosomal dominant mode of transmission with no predilection of genre or ethnic group.
Akshay A Dhobley, Aparna V Thombre, Dipak Ghatage, Ranu Ingole Patil   +3 more
doaj   +3 more sources

A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl [PDF]

Clinical Case Reports
Key Clinical Message Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings.
Lassana Cissé, Abdoulaye Yalcouyé, Kadidia Oumar Touré, Youlouza Coulibaly, Alassane Baneye Maiga, Salia Bamba, Dramane Diallo, Salimata Diarra, Abdoulaye Taméga, Oumou Traoré, Mahamadou Kotioumbé, Moussa Aly Sangaré, Hamidou Oumar Ba, Assiatou Simaga, Fatogoma Issa Koné, Oumar Samassekou, Amadou Koné, Cheick Oumar Guinto, Guida Landouré, the H3Africa consortium   +19 more
doaj   +3 more sources

Delayed diagnosis of cleidocranial dysplasia in an adult: A case report [PDF]

Acta Medica Academica, 2014
Objective. To describe a rare case of cleidocranial dysplasia, an autosomal dominant inherited disease involving the skeleton and teeth, with delayed diagnosis. Case report.
Cengiz Gömleksiz, Erhan Arslan, Selçuk Arslan, Serhat Pusat, Elif Acar Arslan   +4 more
doaj   +2 more sources

Multiple unerupted and supernumerary teeth in a patient with cleidocranial dysplasia [PDF]

Radiology Case Reports, 2018
Cleidocranial dysplasia is an extremely rare familial disorder characterized by partial or complete absence of clavicles, characteristic craniofacial deformities, and the presence of numerous supernumerary and unerupted teeth.
Galal Omami, BDS, MSc, MDentSc, FRCD(C)
doaj   +3 more sources

Cleidocranial dysplasia caused by a novel de novo RUNX2 splice-site variant [PDF]

Human Genome Variation
Cleidocranial dysplasia is an autosomal dominant disorder caused by RUNX2 variants. We report a Japanese boy with enlarged fontanelles in infancy, initially suspected of hypophosphatasia.
Hitoshi Kashiki, Jun Kido, Yohei Misumi, Keishin Sugawara, Naomi Tsuchida, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura   +7 more
doaj   +2 more sources

A Novel 4.2 kb deletion of the 3′UTR of RUNX2 Gene Causes Cleidocranial Dysplasia: Further Delineation of the Role of yhe 3′UTR [PDF]

Balkan Journal of Medical Genetics
Cleidocranial dysplasia is a rare autosomal dominant skeletal dysplasia. We present the first case in the literature involving a deletion of the 3′UTR of RUNX2 gene associated with a cleidocranial dysplasia spectrum disorder, along with the diagnostic ...
Mijovic M, Cuturilo G, Ruml Stojanovic J, Brankovic M, Miletic A, Bosankic B, Dedovic M, Perovic D, Maksimovic N, Damnjanovic T   +9 more
doaj   +2 more sources

Cleidocranial dysplasia: Report of 4 cases and review

Journal of Indian Academy of Oral Medicine and Radiology, 2008
Patients with cleidocranial dysplasia commonly present with significant dental problems such as retention of multiple deciduous teeth, impaction or delay in eruption of permanent teeth and often, the presence of supernumerary teeth.
Virender Gombra, S Jayachandran
doaj   +2 more sources

Anesthetic management during a cesarean section in a patient with cleidocranial dysplasia: a case report

JA Clinical Reports, 2018
Background Cleidocranial dysplasia is a type of skeletal dysplasia, which is primarily characterized by delayed ossification of skeletal structures.
Yumiko Nishio, Teruyuki Hiraki, Hiroko Taniguchi, Kazuo Ushijima   +3 more
doaj   +2 more sources

A novel RUNX2 splice site mutation in Chinese associated with cleidocranial dysplasia [PDF]

Heliyon
Pathogenic genes in most patients with cleidocranial dysplasia have been confirmed to be runt-related transcription factor 2 (RUNX2), which controls mutations in specific osteoblast transcription factors and affects skull ossification and suture adhesion.
Jing Wang, Qiuying Li, Hongyu Li, Xiu Liu, Ying Hu, Yuxing Bai, Kai Yang   +6 more
doaj   +2 more sources

Reconstruction Using Free Vascularized Fibular Grafts after Wide Resection of Humerus Chondrosarcoma in a Patient with Cleidocranial Dysplasia

Case Reports in Orthopedics, 2021
Cleidocranial dysplasia is characterized by hypoplasia of the clavicles, unerupted teeth, narrow pelvis, short stature, and craniofacial malformations. A cause of this skeletal dysplasia is heterozygous mutations of the runt-related transcription factor ...
Junya Shimizu, Kousuke Iba, Makoto Emori, Mikito Sasaki, Toshihiko Yamashita   +4 more
doaj   +1 more source