Results 91 to 100 of about 16,290 (203)
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [PDF]
, 2013 Background: Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos ...
De Paepe, Anne +9 more
core +2 more sources
Clinical 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
American 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
Travmatologiâ 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
Prospective five-year subsidence analysis of a cementless fully hydroxyapatite-coated femoral hip arthroplasty component [PDF]
, 2014 Early subsidence >1.5 mm is considered to be a predictive factor for later aseptic loosening of the femoral component following total hip arthroplasty (THA).
Clauss, Martin +2 more
core +1 more source
Femoral overgrowth following surgical treatment of long-established dysplasia of the hip [PDF]
, 2009 OBJECTIVE: To measure femoral overgrowth using radiographic scanning in patients with long-established Developmental Dysplasia of the Hip treated with femoral shaft shortening, open reduction and acetabuloplasty. METHODS: We studied 30 children (33 hips)
Carrazone, Oreste Lemos +5 more
core +3 more sources
Comparison of Clinical and Sonographic Prevalence of Developmental Dysplasia of the Hip [PDF]
Acta 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
Nuestra Experiencia en el Estudio con Ultrasonografía en la Cadera Neonatal [PDF]
, 1990 Se estudian mediante ultrasonografía las caderas de 112 recién nacidos (224 caderas) con signos clínicos de displasia luxante de cadera. Los resultados se comparan con los datos de exploración clínica y estudio radiográ- fico poniendo en evidencia las ...
Jiménez Jiménez, C. +5 more
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Favorable outcome of total hip arthroplasty with insufficient bone coverage of the roof reinforcement ring: a case report [PDF]
, 2014 A 59-year-old male patient underwent a total hip arthroplasty for the treatment of end-stage dysplastic osteoarthritis. A roof reinforcement ring, a cemented polyethylene cup, and a cementless stem were used.
Caetano, M +5 more
core