Results 71 to 80 of about 40,560 (235)

ISOLATED CONGENITAL GENU RECURVATUM A CASE SERIES

open access: yesJournal of the Bulgarian Orthopaedics and Trauma Association
Congenital Genu Recurvatum (CGR) is a rare anomaly which can be diagnosed prenatally via imaging or following birth by a physical examination. With an incidence of 1 in 100,000 live births, CGR is defined as a pathological degree of hyperextension of ...
Godwin Joy
doaj   +3 more sources

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

open access: yes
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Edwin Cuperus   +7 more
wiley   +1 more source

Clinical Results of Total Hip Arthroplasty in Two Patients with Charcot Hip Joints due to Congenital Insensivity to Pain with Anhydrosis

open access: yesCase Reports in Orthopedics, 2018
Traditionally, Charcot arthropathy has been considered an absolute contraindication for total hip arthroplasty (THA). However, some recent reports have shown that good short- to mid-term results can be achieved by improving the durability of the implant.
Daisuke Inoue   +7 more
doaj   +1 more source

ACETABULAR DEVELOPMENT AFTER SUPRAACETABULAR TUNNELIZATION IN CHILDREN WITH HIP CONGENITAL DYSPLASIA

open access: yesTravmatologiâ i Ortopediâ Rossii, 2012
Introduction. The technology of wire tunnelization of joint elements is used at RISC “RTO” for treatment of young children (10-30 months) with the hip dysplasia of various forms.
M. P. Teplenkiy   +2 more
doaj   +1 more source

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology

open access: yesClinical Genetics, Volume 108, Issue 4, Page 379-392, October 2025.
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc   +5 more
wiley   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B ‐Related Disorders: Case Series and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione   +12 more
wiley   +1 more source

Long-term results of revision hip arthroplasty in patient with congenital hip dislocation after aseptic loosening of acetabular component (case report)

open access: yesTravmatologiâ i Ortopediâ Rossii, 2016
The authors presented uncommon case of revision hip arthroplasty performed for aseptic loosening of the acetabular component implanted in a false acetabulum in patient with high hip dislocation.
V. M. Mashkov, V. V. Dolgopolov
doaj  

Comparison of Clinical and Sonographic Prevalence of Developmental Dysplasia of the Hip [PDF]

open access: yesActa Medica Iranica, 2011
Developmental dysplasia of the hip (DDH) is one of the most widely discussed abnormalities in neonates. The advantages of sonographic examination are well known, but its main disadvantage is that it might lead to over diagnosis, which might cause over ...
Behrooz Zandi   +2 more
doaj   +2 more sources

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