Results 61 to 70 of about 903 (178)

Osteopoikilosis: a rare case with interesting imaging

, 2023
Background: Osteopoikilosis (OPK) is a rare osteosclerotic dysplasia. It is usually asymptomatic and diagnosis is made incidentally by radiographic findings.
Mozaffari Mohammad Ali, Aghaghazvini Leila, Faezi Seyedeh Tahereh, Nejadhosseinian Mohammad, Hadighi Pouya, Babagoli Mazyar*   +5 more
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The heterozygous Lemd3+/GT mouse is not a murine model for osteopoikilosis in humans

, 2009
Osteopoikilosis and the Buschke-Ollendorff syndrome are skeletal dysplasias with hyperostotic lesions in the long bones. These disorders are caused by heterozygous loss-of-function mutations in the LEMD3 gene.
Vandenberghe, Stefaan, Hellemans, Jan, Deleye, Steven, Staelens, Steven, Dheedene, Annelies, Mortier, Geert   +5 more
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Intraosseus and extraosseus juxtaarticular calcification: Osteopoikilosis with synovial osteochondromatosis - an association

, 2009
<p>Osteopoikilosis presents as round or ovoid sclerotic lesions with an appearance like enostosis on pathology. Synovial osteochondromatosis occurs due to cartilaginous metaplasia with synovial villous proliferation with calcified nodules in ...
Parangama Chatterjee, Jyoti Sureka, Elizabeth Joseph, Sniya Sudhakar, Samuel Chittaranjan   +4 more
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Osteopoikilosis as an Uncommon Cause of Extremity Pain: A Case Report

Türk Osteoporoz Dergisi
Osteopoikilosis, also known as spotted bone disease, is a rare, benign, and inherited sclerosing bone dysplasia characterized by multiple small, well-defined sclerotic foci, predominantly involving the appendicular skeleton.
Emre Fidan, Adil Can Karaoğlu, Ahmet Özdemir   +2 more
doaj   +1 more source

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melortheostosis

, 2004
Osteopoikilosis, Buschke-Ollendorff syndrome (BOS) and melorheostosis are disorders characterized by increased bone density(1). The occurrence of one or more of these phenotypes in the same individual or family suggests that these entities might be ...
Andy Willaert, Hellemans, J, Katrien Janssens, Vandesompele, J, Paul J Coucke, Vermeulen, SJT, Olena Preobrazhenska, Naeyaert, JM, Jo Vandesompele, Frank Speleman, Willaert, A, Van Roy, N, Anne De Paepe, Wim Van Hul, Menten, B, Nadine Van Roy, Kristin Verschueren, Filip Vanhoenacker, Speleman, F, Teresa Costa, Peter C M Verdonk, Verdonk, PCM, Ravi Savarirayan, Geert R Mortier, Philippe Debeer, Bjorn Menten, Jean-Marie Naeyaert, Danny Huylebroeck, De Paepe, A, Coucke, PJ, Stefan J T Vermeulen, Mortier, GR, Jan Hellemans, Janssens, K, de Paepe, A., Vanhoenacker, F., Debeer, P., Mortier, G.R., Vandesompele, J., Debeer, P, Vermeulen, S.J., Roy, N.V., Huylebroeck, D., Costa, T., Hellemans, J., Janssens, K., Costa, T, Van Hul, W, Huylebroeck, D, Naeyaert, J.M., Savarirayan, R., Van Hul, W., Speleman, F., Savarirayan, R, Verdonck, P.C., Preobrazhenska, O., Preobrazhenska, O, Menten, B., Verschueren, K, Verschueren, K., Coucke, P.J., Willaert, A., Vanhoenacker, F   +62 more
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Osteopoikilosis (Due to a case)

, 1976
Bursa Üniversitesi Tıp Fakültesi Göğüs Hastalıkları ve Tüberküloz Kürsüsünde yatmakta iken osteopoikilosis tesbit edilen bir vaka detaylı olarak incelenmiştir.A case of osteopoikilosis was diagnosed and literature was reviewed at the Depetmant of chest ...

core  

Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.

, 2009
In their studies on the molecular basis of osteopoikilosis, Menten et al have identified three individuals with microdeletions on chromosome 12q14.4, which removed several genes including LEMD3, the osteopoikilosis gene.
Andrea Superti-Furga, Hermanns, Pia A. M., GALLUZZI F., Francesca Mari, UNGER S., ZABEL B., SUPERTI FURGA A., Maria L Giovannucci-Uzielli, HERMANNS P., GIOVANNUCCI UZIELLI M.L., Pia Hermanns, Daryl Scott, Brendan Lee, Galluzzi, Fiorella, RENIERI, ALESSANDRA, Fiorella Galluzzi, Zabel, Bernhard, Sheila Unger, Unger, Sheila, Scott, Daryl, Superti-Furga, Andrea, SCOTT D., MARI, FRANCESCA, Lee, Brendan, Alessandra Renieri, Bernhard Zabel, LEE B., Giovannucci-Uzielli, Maria Luisa   +27 more
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Osteopoikilosis — Disease without Clinical Symptoms, or Albers-Schönberg Disease

Bolʹ, Sustavy, Pozvonočnik, 2013
The events in this clinical case should be considered in this way: unknown congenital heredity — road accident — radiography — osteopoikolosis.
Ya.I. Lomei, Yu.Ya. Lomei
doaj   +1 more source

Osteopoikilosis a case of most rarity

Acta Orthopaedica et Traumatologica Turcica
The radiologogical findings have been examined and diagnosed an osteopoikilosis. The findings of the case were the same of the literatur when compared. Because of being extremely rare it has been reported.
Ferda Erdogan, Edip Yilidirim
doaj  

Case report of a patient with osteopoikilosis

, 2011
Osteopoikilosis (OPK) is an uncommon osteosclerotic dysplasia. There is no exact evidence of its etiology and pathogenesis. Usually, it is an asymptomatic disease, and the diagnosis is made incidentally from radiographs, which show multiple, small, well ...
Rahime İnci, Inci, Rahime, Hatice Gümüş, Vurdem, Umit Erkan, Gumus, Hatice, Ümit Erkan Vurdem, Mehmet Fatih İnci, Inci, Mehmet Fatih, Inci, Fatih,   +8 more
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