Results 71 to 80 of about 11,683 (204)

Pediatric catatonia: A case report and review of the management

open access: yesPsychiatry and Clinical Neurosciences Reports, Volume 5, Issue 2, June 2026.
Abstract Background Catatonia is when someone does not respond to stimuli or their environment whilst awake. Catatonia can present in a variety of ways, including a change in movement, speech, and behavior. There is limited research on the causes and management of catatonia in an adult population and even more so in the pediatric population.
Alison Thornton, Russell Birkett
wiley   +1 more source

Initial clubfoot treatment in Sweden from 2016 to 2019: A national register study.

open access: yesPLoS ONE
BackgroundThis study aimed to describe the initial treatment of clubfoot deformity in Sweden using a national cohort. Secondarily we aimed to analyse the results of the initial treatment in relation to foot severity and additional diseases.MethodsA ...
Arne Johansson   +2 more
doaj   +1 more source

Reconstructive surgery in recurrent deformity (clubfoot relapse)

open access: yesГений oртопедии, 2021
Introduction Recurrent clubfoot deformity may be due to either an imperfect initial correction, or a natural history of a severe disease. In the later, idiopathic clubfoot is uncommon.
Pierre Lascombes   +2 more
doaj   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

Participation in Self-Collection of Maternal and Infant DNA in a Case-Control Study on Clubfoot [PDF]

open access: yes, 2011
National Institute of Child Health and Human Development ...
Werler, Martha, Yazdy, Mahsa
core   +1 more source

Aplasia Cutis Congenita in Bart's Syndrome: A Case Report and Literature Review

open access: yesClinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Aplasia cutis congenita (ACC) is a partial or complete absence of skin layers which can be a part of a syndromic disease. Bart's syndrome is a combination of clinical manifestations including ACC, epidermolysis bullosa, blistering in the oral mucosa, nail dystrophy, or congenital absence of nails. Additional anomalies, such as pyloric atresia,
Parvaneh Sadeghimoghadam   +4 more
wiley   +1 more source

Adalimumab‐responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys‐Dietz Syndrome

open access: yesDEN Open, Volume 6, Issue 1, April 2026.
ABSTRACT Loeys‐Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in TGFBR1 or TGFBR2. It is characterized by vascular fragility, skeletal abnormalities, and predisposition to allergic and inflammatory conditions, including monogenic inflammatory bowel disease (IBD).
Tomomitsu Sado   +9 more
wiley   +1 more source

Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection [PDF]

open access: yes, 2014
Despite declining sequencing costs, few methods are available for cost-effective single-nucleotide polymorphism (SNP), insertion/deletion (INDEL) and copy number variation (CNV) discovery in a single assay.
Alvarado, David M   +4 more
core   +2 more sources

Clubfoot in children

open access: yesActa chirurgica Iugoslavica, 2011
Clubfoot, or talipes equinovarus, is a deformity consisting of equinus, varus, and adductus foot deformity. The true etiology of congenital clubfoot is unknown; several theories have been proposed. The pathology of the individual bones contributes to the clubfoot deformity and soft tissue contractures around the ankle and ...
Vladan Stevanovic   +4 more
openaire   +3 more sources

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