Results 71 to 80 of about 65,546 (106)

Cleidocranial dysplasia

, 2001
A 14-year-old boy presented with proportionate short stature (height 140 cm; Upper segment: Lower segment: 0.9:1), macrocephaly (head circumference 59.5cm), brachycephaly and prominent forehead.
S. Gulati, M. Kabra
core   +2 more sources

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

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   +1 more source

Marie-Sainton syndrome. Case reports

Acta Médica del Centro, 2011
Marie-Sainton syndrome, also known as cleidocranial dysostosis, has a florid clinical picture dominated by changes in the clavicles and skull. Abnormalities in tooth eruption and dysmorphism are other distinctive features of this condition.
Reynaldo E. Delis Fernández, Raisa Escudero Alemán, Aída Pérez Alfonso   +2 more
doaj  

The anomalies of permanent dentition in cleidocranial dysplasia

, 2001
Cleidocranial Dysplasia(CCD) is an autosomal dominant human bone disease characterized by abnormal clavicles, patent sutures and fontanelles, and dental anomalies.
이제호
core  

Aspekt chirurgiczny opieki nad pacjentem z dysplazją obojczykowo-czaszkową – opis przypadku = Surgical aspect of patient care with cleidocranial dysplasia - case report

Journal of Education, Health and Sport, 2016
Szczepkowska Aleksandra, Osica Piotr, Janas-Naze Anna. Aspekt chirurgiczny opieki nad pacjentem z dysplazją obojczykowo-czaszkową – opis przypadku = Surgical aspect of patient care with cleidocranial dysplasia - case report.
Aleksandra Szczepkowska, Piotr Osica, Anna Janas-Naze   +2 more
doaj   +2 more sources

RUNX2 mutations in cleidocranial dysplasia

, 2013
The runt-related transcription factor 2 gene (RUNX2), which is also known as CBFA1, is a master regulatory gene in bone formation. Mutations in RUNX2 have been identified in cleidocranial dysplasia (CCD) patients.
Yıldırım, Mustafa Semih, Seymen, Figen, KO, J., LEE, K. -E., KIM, J. -W., Gencay, K., Tuna, E. B.   +6 more
core   +1 more source

Cleidocranial dysplasia: A case report

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2008
Cleidocranial dysplasias is an autosomal dominant disorder that presents with skeletal dysplasia. The dental manifestations are mainly delayed exfoliation of primary teeth and delayed eruption of permanent teeth, with multiple impacted supernumeraries ...
Hemalatha R, Balasubramaniam M
doaj  

Cleidocranial dysplasia: a dilemma in diagnosis?

, 2010
Cleidocranial dysplasia is a developmental anomaly and is characterized by craniofacial and skeletal malformations as well as the presence of numerous supernumerary and unerupted teeth.
Husna Zayadi
core  

Cleidocranial dysplasia: a case report

مجله دانشکده دندانپزشکی اصفهان, 2009
Introdution: Cleido cranial Dysplasia (CCD) is a rare autosomal dominant disorder affecting skull and clavicle and may be accompanied by some other skeletal abnormalities.
P Ghalyani, N Sarrafan
doaj  

A Cephalometric Investigation of Cleidocranial Dysplasia

, 1974
Indiana University-Purdue University Indianapolis (IUPUI)The characteristics of cleidocranial dysplasia were first reported in 1897 by Pierre Marie and Paul Sainton.
Davis, James Paul
core   +1 more source