Results 11 to 20 of about 1,796 (161)

Cleidocranial Dysplasia

JK Science, 2023
Cleidocranial dysplasia (CCD) is a rare autosomal dominant dysplasia with an estimated incidence of 1:1,000,000. Prominent features include large head with delayed suture closure, persistent metopic suture, Wormian bones, hypertelorism, small face ...
Mandeep Kaur
doaj   +5 more sources

Cleidocranial dysplasia

Lung India, 2010
Cleidocranial dysplasia is a rare autosomal dominant condition with generalized dysplasia of bone, characterized by delayed closer of cranial sutures, hypoplastic or aplastic clavicles, short stature, dental abnormalities and a variety of other skeletal ...
Dixit Ramakant, Dixit Kalpana, Paramez A
doaj   +3 more sources

Correlation of RUNX2 Variants With Craniofacial-Dental Phenotypes in Cleidocranial Dysplasia. [PDF]

Clin Exp Dent Res
ABSTRACT Objectives Cleidocranial dysplasia (CCD) is a rare RUNX2‐related skeletal disorder characterized by craniofacial anomalies and skeletal Class III malocclusion. However, the relationship between RUNX2 variant type and phenotype severity remains unclear. This study aimed to evaluate the association between RUNX2 variant types and the severity of
Chantarawaratit PO, Thaweesapphithak S, Pittayapat P, Porntaveetus T.   +3 more
europepmc   +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: A Case Report Highlighting Dental, Craniofacial, and Skeletal Complexity. [PDF]

Clin Case Rep
ABSTRACT Cleidocranial dysplasia (CCD) is a rare congenital skeletal disorder characterized by clavicular hypoplasia, craniofacial anomalies, and complex dental abnormalities, commonly caused by RUNX2 gene mutations. This report describes a 25‐year‐old female who presented with acute dental pain.
Giri AK, Thapa B, Chaudhary M.
europepmc   +2 more sources

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   +2 more sources

Clinical‐radiological approach for the diagnosis of cleidocranial dysplasia in adults: A familial cases series [PDF]

Clinical Case Reports, 2021
Cleidocranial dysplasia is a rare disease with an autosomal‐dominant inheritance that mainly affects the bones of the axial skeleton. In this report, we discuss the clinical and radiological signs of a case series comprising three sisters and the son of ...
Javier Ignacio Segovia‐Fuentes, Jorge Armando Egurrola‐Pedraza, Edgar Junior Castro‐Mendoza, Eder Cano‐Pérez, Doris Esther Gómez‐Camargo, Dacia Isabel Malambo‐García   +5 more
doaj   +2 more sources

A Cryptic CBFB Deletion-Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia. [PDF]

Clin Genet
Following clinical review of a 100 000 Genomes Project family with genetically‐unsolved CCD, we manually inspected read‐alignments and identified a deletion‐inversion‐deletion that removes the first two exons of CBFB. This cryptic variant comprised deletions of 1310/1935bp, was undetectable by array‐CGH and was likely mediated by palindromic AluSx ...
Pagnamenta AT, Hashim M, Kennedy J, Lawton B, Offiah AC, Taylor JC, Smithson SF.   +6 more
europepmc   +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

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   +2 more sources