Results 31 to 40 of about 72,220 (148)

Cleidocranial dysplasia: A family report

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2009
A 10-year-old girl presented with a chief complaint of many unerupted teeth. Complete clinical and radiological examination of this patient confirmed the diagnosis of cleidocranial dysplasia (CCD). Her father also presented similar features with a lesser
Chelvan H, Malathi N, Kailasam Vignesh, Ponnudurai A   +3 more
doaj   +1 more source

Cleidocranial dysplasia in a Moroccan patient: a case report. [PDF]

Pan Afr Med J
Cleidocranial dysplasia is a rare autosomal dominant disorder characterized by skeletal and dental anomalies, often enabling early recognition by dental practitioners.
Mansy H, Oumensour K, Ikiss JA, Elarabi S.   +3 more
europepmc   +2 more sources

The p38 MAPK pathway is essential for skeletogenesis and bone homeostasis in mice [PDF]

, 2010
Nearly every extracellular ligand that has been found to play a role in regulating bone biology acts, at least in part, through MAPK pathways. Nevertheless, much remains to be learned about the contribution of MAPKs to osteoblast biology in vivo. Here we
Zhai, Bo, Weiguo Zou, Shim, Jae-Hyuck, Hu, Dorothy, Lotinun, Sutada, Glimcher, Laurie H., Arthur, Simon; id_orcid, Michael D. Schneider, Yasuyo Sano, Min Xie, Matthew B. Greenblatt, Laurie H. Glimcher, Jae-Hyuck Shim, Roger Davis, Xie, Min, Sano, Yasuyo, Despina Sitara, Schweitzer, Michelle, Park, Jin Mo, Schneider, Michael D., Gygi, Steven, Greenblatt, Matthew B., Baron, Roland, Simon Arthur, Zou, Weiguo, Jin Mo Park, Michelle Schweitzer, Davis, Roger, Roland Baron, Sitara, Despina, Sutada Lotinun, Dorothy Hu, Bo Zhai, Steven Gygi   +33 more
core   +1 more source

Cleidocranial Dysplasia Affecting Three Generations in a Family: A Unique Case Report [PDF]

Journal of Krishna Institute of Medical Sciences University, 2021
Cleidocranial Dysplasia (CCD) is a rare autosomal dominant syndrome that occurs in approximately 1 per million individuals worldwide. This syndrome is characterized by skeletal, orofacial, and dental manifestations like hypoplastic or ...
Vathsala Patil , Keerthilatha M. Pai , Yogesh Chhaparwal , Shubha Chhaparwal   +3 more
doaj  

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

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   +1 more source

Cleidocranial dysplasia - A case report

Journal of Orofacial Sciences, 2011
Cleidocranial dysplasia (Dysostosis) is an autosomal dominant disease with a wide range of expression, characterized by clavicular aplasia or hypoplasia, defective ossification, retarded cranial ossification, delayed bone and teeth development ...
Gautam Srivastava, J Narendra Dev, Srinivas R Ponnam, K Surekha, G Sudhakar, B Smitha   +5 more
doaj   +1 more source

“Candy shaped vertebrae” as a form of presentation of spinal deformities in a patient with Cleidocranial syndrome

Interdisciplinary Neurosurgery, 2022
Cleidocranial Dysplasia (CCD) or Cleidocranial dysostosis is a very rare, under-diagnosed pathology caused by a variable degree of expression of a dominant gene.
Juan Esteban Muñoz Montoya, Deivyn Alexis González Mendoza, Janeth Milena Riascos Rodríguez, Andrés Felipe Vargas Rosales, Valentina Chacón Perez, Francisco Valderrama Arias, Sebastián Toro López   +6 more
doaj   +1 more source

Cleidocranial Dysplasia: Case Report

, 2015
A 31-year-old man experienced bilateral posterior glenohumeral dislocation during seizures. He had cleidocranial dysplasia with complete absence of both clavicles.
ÇAĞLAYAN, Fatma, BAYRAKDAR, İBRAHİM ŞEVKİ, AZLAĞ PEKİNCE, KADER, BİLGE, Nebiha Hilal, NEBİHA HİLAL, BİLGE, AZLAĞ, KADER   +5 more
core   +1 more source

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  

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, Volume 110, Issue 3, Page 363-368, September 2026.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source