Results 41 to 50 of about 5,857 (209)
American Journal of Medical Genetics Part A, Volume 200, Issue 12, Page 2708-2718, December 2026.ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia +6 more
wiley +1 more source
TALECTOMY FOR EQUINOVARUS DEFORMITY IN ARTHROGRYPOSIS AND SPINA BIFIDA
, 1971 1. The indications for talectomy in the treatment of equinovarus deformity in arthrogryposis multiplex congenita and spina bifida are discussed. 2.
M. B. Menelaus
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Revista Médica Clínica Las Condes, 2021 Resumen: El pie bot es la deformidad congénita más frecuente de las extremidades inferiores del ser humano, afectando a 1 de cada 1000 recién nacidos vivos.
Estefanía Birrer +2 more
doaj +1 more source
Tibial torsion measured by ultrasound in children with talipes equinovarus
, 1991 Previous clinical studies have studied tibiofibular torsion by measuring the angular difference between a proximal (often bicondylar) plane and a distal bimalleolar plane.
JC Theis +4 more
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An observational study on congenital talipes equinovarus. [PDF]
, 2020 Introduction: Clubfoot or Congenital Talipes Equinovarus (CTEV) is a congenital ab-normality characterized by the permanent foot morphological alteration, conse-quently individual is unable to lean the foot properly on the floor in an appropriate ...
Pushpa Goswami +4 more
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Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency
Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan +23 more
wiley +1 more source
Therapeutic possibilities in treatment of pes equinovarus congenitus [PDF]
, 2006 Cílem práce není pouze utvoření přehledu možností konzervativní terapie při léčbě pes equinovarus congenitus, ale také shrnutí diagnostických a operačních postupů.
Šafářová, Anna
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Anterior transfer of the toe flexors for equinovarus deformity due to hemiplegia
, 1994 We report the results of transfer of the long toe flexors and lengthening of the calcaneal tendon in 33 patients with equinovarus deformity requiring orthoses after a stroke.
H Yamamoto, K Furuya, S Morita
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, 2022 Congenital talipes equinovarus merupakan kelainan bawaan pada kaki dan pergelangan kaki yang berupa deformitas inversi, kombinasi equines dan varus dari kaki belakang, serta adduksi dari sendi subtalar dan midtarsal.
Anshar, Anshar +4 more
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Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management
Otolaryngology–Head and Neck Surgery, Volume 175, Issue 5, Page 965-976, November 2026.Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
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