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Shwachman-Diamond syndrome.
Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P. Dall'oca C, et al. Musculoskelet Surg. 2012 Aug;96(2):81-8. doi: 10.1007/s12306-011-0174-z. Epub 2011 Dec 27. Musculoskelet Surg. 2012. PMID: 22201042 Review.
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder with exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. Patients frequently present failure to thrive, susceptibility to infections and short stature. ...We describe a c …
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder with exocrine pancreatic insufficiency, bone marrow failure and skel …
Chronic recurrent multifocal osteomyelitis: typical patterns of bone involvement in whole-body bone scintigraphy.
Acikgoz G, Averill LW. Acikgoz G, et al. Nucl Med Commun. 2014 Aug;35(8):797-807. doi: 10.1097/MNM.0000000000000126. Nucl Med Commun. 2014. PMID: 24736329 Review.
Typically, several bones are affected, either synchronously or metachronously, and bilateral involvement is common. CRMO most commonly affects the metaphysis of long bones, especially the tibia, femur, and clavicle. The spine, pelvis, ribs, sternum, and mandible may …
Typically, several bones are affected, either synchronously or metachronously, and bilateral involvement is common. CRMO most commonly affec …
Longitudinal microvascularity in Achilles tendinopathy (power Doppler ultrasound, magnetic resonance imaging time-intensity curves and the Victorian Institute of Sport Assessment-Achilles questionnaire): a pilot study.
Richards PJ, McCall IW, Day C, Belcher J, Maffulli N. Richards PJ, et al. Skeletal Radiol. 2010 Jun;39(6):509-21. doi: 10.1007/s00256-009-0772-0. Epub 2009 Aug 27. Skeletal Radiol. 2010. PMID: 19711073 Review.
Six asymptomatic tendons with normal US and MRI appearance showed less enhancement than the tibial metaphysis did and showed a flat, constant, but very low rate of enhancement in the bone and Achilles tendon (9-73 arbitrary TIC units). ...One tendon did not change i …
Six asymptomatic tendons with normal US and MRI appearance showed less enhancement than the tibial metaphysis did and showed a …
Does the Clinical Presentation of Secondary Osteosarcoma in Patients Who Survive Retinoblastoma Differ From That of Conventional Osteosarcoma and How Do We Detect Them?
Kim Y, Park JW, Cho HS, Jang WY, Han I, Kim HS. Kim Y, et al. Clin Orthop Relat Res. 2023 Nov 1;481(11):2154-2163. doi: 10.1097/CORR.0000000000002667. Epub 2023 May 5. Clin Orthop Relat Res. 2023. PMID: 37145140 Free PMC article. Review.
RESULTS: In nine of 14 patients, the tumor had a diaphyseal center, and five of the tumors were located at the metaphysis. The femur was the most common site (n = 10), followed by the tibia (n = 4). The median tumor size was 9 cm (range 5 to 13 cm). ...Four patients …
RESULTS: In nine of 14 patients, the tumor had a diaphyseal center, and five of the tumors were located at the metaphysis. The femur …
[Weaver syndrome. 1st case reported in Venezuela].
Sánchez O, Boufajreldin S, Oranges C, Orta C, Guerra D. Sánchez O, et al. Invest Clin. 1997 Mar;38(1):9-24. Invest Clin. 1997. PMID: 9235073 Review. Spanish.
The proband presents persistent pre and post-natal overgrowth, asynchronic advanced bone age, particular facies, (macrocephaly, ocular hypertelorism, micrognathia, large ears), bilateral widening of the distal femoral metaphysis, bilateral tibia vara, prominent feta …
The proband presents persistent pre and post-natal overgrowth, asynchronic advanced bone age, particular facies, (macrocephaly, ocular hyper …
Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): "SMD-corner fracture type" (DCV/SMD-CF) demonstrated in most reported cases.
Currarino G, Birch JG, Herring JA. Currarino G, et al. Pediatr Radiol. 2000 Jan;30(1):14-24. doi: 10.1007/s002470050005. Pediatr Radiol. 2000. PMID: 10663502 Review.
MATERIALS AND METHODS: The first and second patients were sisters; their mother, also quite short, had surgical procedures in early life for bilateral "coxa vara"; their brother, also of short stature, had bilateral coxa valga with otherwise normal femoral heads and necks, and mi …
MATERIALS AND METHODS: The first and second patients were sisters; their mother, also quite short, had surgical procedures in early life for …