Results 91 to 100 of about 1,058,904 (200)

Melorheostosis: a case report

Journal of the Foot & Ankle
Melorheostosis, or Léri's disease, is a rare sclerosing bone dysplasia characterized by irregular bone growth and progressive cortical hyperostosis, usually limited to a single limb.
Fernando P Oliveira, João M Marques, Francisco S. Rodrigues, Erica Marto, Paula H. Silva, José Mousinho   +5 more
doaj   +2 more sources

Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1

Bone, 2019
The osteopetroses and related sclerosing bone dysplasias can have a broad range of manifestations. Especially in the milder forms, sandwich vertebrae are an easily recognizable and reliable radiological hallmark. We report on four patients from three families presenting with sandwich vertebrae and platyspondyly. The long bone phenotypes were discordant
Antonia Howaldt, Sheela Nampoothiri, Lisa-Marie Quell, Ayse Ozden, Björn Fischer-Zirnsak, Corinne Collet, Marie-Christine de Vernejoul, Hakan Doneray, Hülya Kayserili, Uwe Kornak   +9 more
openaire   +4 more sources

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia

, 2009
Raine syndrome is an osteosclerotic bone dysplasia, which has proved to be lethal within the first few weeks of life in all the reported cases to date. We recently identified a chromosomal rearrangement and telomeric microdeletion in a patient with Raine
Hurst, J, Patton, M A, Crosby, A H, Stewart, H, Simpson, M A, Scheuerle, A   +5 more
core   +1 more source

The orthopaedic implications of the sclerosing bone dysplasias.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1980
Sclerosing bone dysplasias are a group of unusual disorders with important and frequently lethal complications. During the past 8 years more than 80 patients with disorders of this type have been investigated in the Department of Human Genetics, University of Cape Town.
P, Beighton, H, Hamersma
openaire   +1 more source

Aneurysmal bone cyst in association with fibrous dysplasia. A case report

, 1986
A patient with polyostotic fibrous dysplasia had several fractures of the right lower limb. An above-knee amputation was eventually performed, followed by arthrodesis of the hip.
RL Diercks, WM Mallens, AJ Sauter
core   +1 more source

Sclerosing Bone Dysplasias [PDF]

, 2012
Perdu, Bram, Mortier, Geert, Vanhoenacker, Filip, Van Hul, Wim   +3 more
openaire   +2 more sources

A Japanese Case of Lenz‐Majewski Syndrome With a Novel PTDSS1 Variant

Molecular Genetics & Genomic Medicine
Background Lenz‐Majewski syndrome (LMS) is a rare genetic disorder characterized by osteosclerosis, intellectual disability, characteristic facies, and distinct craniofacial, dental, cutaneous, and distal‐limb anomalies.
Yasuko Kobari, Non Miyata, Jun Takayama, Naoya Saijo, Tomohisa Suzuki, Shigeo Kure, Atsuo Kikuchi, Gen Tamiya, Takumi Takizawa   +8 more
doaj   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

ISEV2026 Abstract Book

Journal of Extracellular Vesicles, Volume 15, Issue S1, June 2026.
wiley   +1 more source

Melorheostosis: Report of a new case with linear scleroderma

, 1998
Melorheostosis is a very rare bone disease of unknown etiology characterised by linear hyperostosis and associated with fibrosis of soft tissues and the skin.
Birtane, M, Eryavuz, M, Unalan, H, Tuzun, F   +3 more
core   +1 more source