Results 161 to 170 of about 14,022 (262)

A Rare Case of Dual De Novo Mutations Presenting With Infantile Spasms, Congenital Contractures, and Axial Hypotonia. [PDF]

Cureus
Fakih H.
europepmc   +1 more source

Correction of Lateralization of the Perioral Insertion of Gracilis Muscle in Facial Reanimation in Children: A Report of Two Cases

Microsurgery, Volume 46, Issue 5, July 2026.
ABSTRACT Facial palsy in pediatric patients can lead to severe functional impairments and psychosocial challenges. Free gracilis muscle transfer (FGMT) is to date the gold standard for dynamic facial reanimation, but suboptimal aesthetic outcomes (SAO), due to malpositioning of the nasolabial fold, still represent a challenge to the surgeons ...
A. Haumer, O. Engström, R. Dong, A. Rodriguez‐Lorenzo   +3 more
wiley   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, Volume 110, Issue 1, Page 125-130, July 2026.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

A case report and literature review of pediatric multifocal melorheostosis in a unilateral limb. [PDF]

Int J Surg Case Rep
Na X, Fuyong Y, Xiushu T, Lijun W, Lingjia Y, Kai T, Yisheng X.   +6 more
europepmc   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Central Ray Synpolydactyly with Bilateral Medial Foot Polydactyly and Hydrocephalus: A Case Report. [PDF]

Plast Reconstr Surg Glob Open
Alobaidi H, Suraya F, Alrajhi R, Alghamdi AM, Mirza M.   +4 more
europepmc   +1 more source

Barriers to the Accessibility of Childcare Services for Children With Disabilities Aged 0 to 5 Years: Perspectives of Parents and Childcare Staff

Children &Society, Volume 40, Issue 4, Page 823-835, July 2026.
ABSTRACT According to Article 23 of the United Nations Convention on the Rights of the Child, children with disabilities are entitled to education, including access to high‐quality childcare services. Despite international and national commitments to inclusion, persistent obstacles continue to limit equitable access to childcare services for children ...
François Routhier, Josiane Lettre, Fidélia Longchamps, Gbetogo Maxime Kiki, Chantal Desmarais, Marie Grandisson, Ernesto Morales, Marie‐Eve Lamontagne, Francine Julien‐Gauthier, W. Ben Mortenson, Debra Field, Jill G. Zwicker, Wenonah Campbell, Michelle Phoenix, Marie‐Claude Belleau, Francine Tellier, Stéfanie Lamothe, Jason Gordon, Keely Edgington, Gabrielle Gagnon, Michelle Goulet, Anne‐Marie Guillot, Bobbi Taylor, Michelle Wan   +23 more
wiley   +1 more source

Cerebral palsy in Brazil: A multicentre, cross‐sectional, descriptive study

Developmental Medicine &Child Neurology, Volume 68, Issue 7, Page 983-989, July 2026.
Main clinical and perinatal characteristics of children and adolescents with cerebral palsy from a nationwide rehabilitation network in Brazil. This original article is commented on by Cuestas on pages 883‐884 of this issue. Portuguese translation of this Original Article is available in the online issue.
Eliana Valverde Magro Borigato, Bruno Leonardo Scofano Dias, Erica Ueno Imamura, Sandro Barbosa de Oliveira, Erika Carvalho Pires Arci, Alessandra Lemos de Carvalho, Acácia Pinheiro Álvares Fernandes da Silva, Fernanda Jordão Pinto Marques, Lucia Willadino Braga, SARAH Pediatric Rehabilitation Team, Liliane Baía Silva, Lorena Moraes e Macedo Tostes, Fernanda de Lourdes da Cunha Pinto, Danielle Bruno Jardim, Raquel Fernandes Moreira, Rafaela Christine Dutra, Marta Cristina da Silva Teixeira   +16 more
wiley   +1 more source

The technical and practical implementation of fundus photography in equids

Equine Veterinary Education, Volume 38, Issue 7, Page 371-381, July 2026.
Summary Background Fundus photography is an important diagnostic tool in human and veterinary medicine. Advances in research are increasing its accessibility in human medicine. However, there is a lack of studies on modern fundus photography in animals, particularly in horses. Objectives To assess the use of a portable fundus camera developed for human
I. Vierling, B. Wollanke, V. Franzen
wiley   +1 more source