Results 221 to 230 of about 53,280 (283)

Hajdu-Cheney Syndrome With Coexisting Rheumatoid Arthritis: A Diagnostic Challenge. [PDF]

Cureus
Hasan M, Sharmin S, Nidul AAH.
europepmc   +1 more source

Gene‐Specific Growth Charts for ASXL3 ‐Related Disorder

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 978-981, April 2026.
E. Woods, K. J. Low, T. J. Cole, M. Balasubramanian   +3 more
wiley   +1 more source

Mapping Dental Care for Children and Adolescents With Rare Diseases: A Brazilian Multicentre Study

Community Dentistry and Oral Epidemiology, Volume 54, Issue 2, Page 163-173, April 2026.
ABSTRACT Objectives To describe the landscape of dental care provided by specialised centres for children and adolescents with rare diseases (RDs) in the state of Minas Gerais, southeastern Brazil. Methods A retrospective cross‐sectional study was conducted involving individuals aged 0–18 years with a confirmed diagnosis of a RD who received care at ...
Heloisa Vieira Prado, Rayssa Maria Soalheiro de Souza, Gabriella Guerra Freire Gabrich Fonseca, Kamila Rodrigues Junqueira Carvalho, Anna Vitória Mendes Viana Silva, Iasmin Fonseca Tolentino Mascarenhas, Beatriz Rezende Bergo, Hanna Larissa Barbosa Soares, Bárbara Mendes de Jesus, Layanne Ribeiro Ferreira e Sobral, Kélisson Duarte Reis, Késia Lara dos Santos Marques, Fabiana Sodré de Oliveira, Daniella Reis Barbosa Martelli, José Alcides Almeida de Arruda, Benjamin P. J. Fournier, Denise Vieira Travassos, Soraia Macari, Célia Regina Moreira Lanza, Ana Cristina Borges‐Oliveira, Hercílio Martelli‐Júnior, Tarcília Aparecida Silva   +21 more
wiley   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, Volume 109, Issue 4, Page 788-795, April 2026.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Childhood OSAS and Obesity: Prospective Associations of Anthropometric Markers With Objective Sleep Outcomes in the CHAT Trial

Journal of Sleep Research, Volume 35, Issue 2, April 2026.
ABSTRACT Obstructive sleep apnea syndrome (OSAS) is characterised by episodic upper airway obstruction that occurs during sleep and is common in children with obesity. The aim of the present study was to analyse the association between baseline anthropometric markers and objective sleep quality measures at follow‐up in school‐aged children with OSAS ...
Catalina Ramírez‐Contreras, Verónica Palma Elgueta, Lautaro Briones‐Suárez   +2 more
wiley   +1 more source

Peri-implant Femoral Fracture: An Uncommon Presentation in a Patient with Hallermann-Streiff Syndrome - A Case Report and Review of the Literature. [PDF]

J Orthop Case Rep
Ramírez LMR, Davila EV.
europepmc   +1 more source

Tongue and Hyoid Bone Positions and Its Relations to the Mandibular Anterior Teeth: A Cone‐Beam Computed Tomography Study

Orthodontics &Craniofacial Research, Volume 29, Issue 2, Page 247-257, April 2026.
ABSTRACT Objectives This study aimed to investigate the position of the tongue and hyoid bone at rest according to incisal relationships using cone beam computed tomography and to examine whether dentoskeletal measurements are correlated with these positions.
Hieu Nguyen, Ji‐Hye Park, Till Edward Bechtold, Jung Jin Park, Yoon Jeong Choi   +4 more
wiley   +1 more source

KBG syndrome complicated with chylothorax in a newborn: a case report and literature review. [PDF]

Front Pediatr
Wang Y, Peng X, Zhu J, Zou N, Yu X, Yang L.   +5 more
europepmc   +1 more source