Results 11 to 20 of about 2,507 (167)

Clinical Spectrum of Cleidocranial Dysplasia: A Case Report

National Journal of Community Medicine, 2010
Background: The developmental anomaly involving skeleton and teeth is Cleidocranial dysplasia. It is an autosomal disorder with equal sex distribution.
P Sakhi, P Yadav, R Susmitha, A Chawla, CJ Yadav, J Gupta   +5 more
doaj   +1 more source

Pycnodysostosis Unveiled: Craniofacial and Dental Manifestations in Focus. [PDF]

Case Rep Dent
Pycnodysostosis refers to an uncommon autosomal recessive developmental anomaly, which results in decreased bone remodeling, manifesting itself in a variety of clinical and radiographic displays. We report two cases involving two sisters aged 12.5 and 8 years old from a consanguineous marriage.
M Rabt K, Kharraz S, Ramdi H, Zaoui F, Halimi A.   +4 more
europepmc   +2 more sources

Pathways to enhancing prenatal diagnosis of skeletal dysplasias. [PDF]

Pregnancy (Hoboken)
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Wang MJ, Jacobsen C, Arnold J, Wapner RJ, Krakow D.   +4 more
europepmc   +2 more sources

Deconstructing Oral Surgical and Orthodontic Considerations in Complex Cases: A Case Report on Two Patients With Multiple Impacted Teeth. [PDF]

Case Rep Dent
Management of multiple impacted teeth in nonsyndromic adolescents can be challenging, particularly when impactions involve several quadrants. This case report describes two adolescent patients with extensive impactions affecting both permanent and supernumerary teeth, with an emphasis on the clinical reasoning that guided treatment decisions.
Anderson B, Shen H, Xie J, Cabeceiras D, Ferraro N.   +4 more
europepmc   +2 more sources

Cleidocranial dysostosis

, 2010
Basab Bhattacharya, Yahya Baba, Ayla Al Kabbani   +2 more
core   +4 more sources

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga   +20 more
wiley   +1 more source

History and highlights of the teratological collection in the Narrenturm, Vienna (Austria)

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1301-1324, May 2023., 2023
Abstract The collection of the Narrenturm in Vienna houses and maintains more than 50,000 objects including approximately 1200 teratological specimens; making it one of the biggest collections of specimens from human origin in Europe. The existence of this magnificent collection―representing an important resource for dysmorphology research, mostly ...
Lucas L. Boer, Susanne Gerit Kircher, Helga Rehder, Jana Behunova, Eduard Winter, Helmut Ringl, Anke Scharrer, Elke de Boer, Roelof‐Jan Oostra   +8 more
wiley   +1 more source

Bilateral ‘kissing’ molars: A case report

Clinical Case Reports, Volume 10, Issue 11, November 2022., 2022
Abstract ‘Kissing molars’, were described by Van Hoof in 1973 as when the occlusal surfaces of impacted molars are united by the same follicular space and the roots point in the opposite direction. There are very few published cases in the literature, and it is an extremely rare form of impaction.
Bilal Aslam‐Pervez, Emma Carr
wiley   +1 more source

Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene

Molecular Genetics &Genomic Medicine, Volume 10, Issue 5, May 2022., 2022
Pycnodysostosis is a rare variant of skeletal dysplasia characterized by a combination of specific features such as disproportionate nanism, generalized osteosclerosis, and distinct craniofacial dysmorphism. The polymorphism of the pycnodysostosis clinical manifestations and its low prevalence make it difficult to have an accurate diagnosis.
Tatiana Vladimirovna Markova, Vladimir Kenis, Evgeniy Melchenko, Darya Guseva, Darya Osipova, Nailya Galeeva, Tatiana Nagornova, Elena Leonidovna Dadali   +7 more
wiley   +1 more source

Impacted Palatal Canines and Diode Laser Surgery: A Case Report

Case Reports in Dentistry, Volume 2022, Issue 1, 2022., 2022
Introduction. Maxillary canine is the most frequent dental element that could likely remain impacted in the bone structure, with a percentage between 1 and 5%. This study presents a case report using a diode laser for surgical‐orthodontics disinclusion of a palatal mucosal impacted permanent left upper canine (2.3) and the simultaneous application of ...
Marina Consuelo Vitale, Maria Gloria Nardi, Matteo Pellegrini, Francesco Spadari, Federica Pulicari, Roberto Alcozer, Martina Minardi, Maria Francesca Sfondrini, Karin Bertino, Andrea Scribante, Giuseppe Alessandro Scardina   +10 more
wiley   +1 more source