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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
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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
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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 +3 more
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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 +5 more
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A novel RUNX2 splice site mutation in Chinese associated with cleidocranial dysplasia [PDF]
HeliyonPathogenic 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 +6 more
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A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl [PDF]
Clinical Case ReportsKey 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 +19 more
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Multiple unerupted and supernumerary teeth in a patient with cleidocranial dysplasia
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
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Prosthetic rehabilitation of a patient with cleidocranial dysplasia using dental implants—a clinical report [PDF]
International Journal of Implant Dentistry, 2021 Adult patients with oral manifestations of untreated syndromic malformations usually exhibit a high degree of suffering. In this clinical report, we describe the implant-supported prosthetic treatment of a patient with cleidocranial dysplasia, a rare ...
Sigmar Schnutenhaus +2 more
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Cleidocranial Dysplasia Causing Respiratory Distress in Neonates: A Case Report and Literature Review [PDF]
Frontiers in Genetics, 2021 Cleidocranial dysplasia (CCD; OMIM 119600) is a rare autosomal dominant skeletal dysplasia, which is mainly characterized by persistently open or delayed closure of fontanelle, patent skull sutures, abnormal clavicles, pectus excavatum, short stature ...
Ru Xue +3 more
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Online Journal of Health & Allied Sciences, 2010 We have reported a case of Yunis-Varon syndrome which is a rare, autosomal recessive syndrome characterized by growth retardation, defective growth of the cranial bones, characteristic facial features, abnormalities of the fingers and/or toes ...
Sameer I. Dal, Parin Parmar
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