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Quoted phrase not found in phrase index: "Abnormal hand bone ossification"
Page 1
Degenerative Cervical Myelopathy: A Clinical Review.
Gibson J, Nouri A, Krueger B, Lakomkin N, Nasser R, Gimbel D, Cheng J. Gibson J, et al. Yale J Biol Med. 2018 Mar 28;91(1):43-48. eCollection 2018 Mar. Yale J Biol Med. 2018. PMID: 29599656 Free PMC article. Review.
DCM can present with a wide set of clinical and imaging findings, including: 1) pain and reduced range of motion of the neck, and motor and sensory deficits on clinical exam, and 2) cord compression due to static and dynamic injury mechanisms resulting from degenerative changes o …
DCM can present with a wide set of clinical and imaging findings, including: 1) pain and reduced range of motion of the neck, and motor and …
Diagnosis and management of pediatric metabolic bone diseases associated with skeletal fragility.
Charoenngam N, Cevik MB, Holick MF. Charoenngam N, et al. Curr Opin Pediatr. 2020 Aug;32(4):560-573. doi: 10.1097/MOP.0000000000000914. Curr Opin Pediatr. 2020. PMID: 32692054 Review.
PURPOSE OF REVIEW: The goal of this review is to give an overview of diagnosis and up-to-date management of major pediatric metabolic bone diseases that are associated with bone fragility, including nutritional rickets, hypophosphatemic rickets, osteogenesis …
PURPOSE OF REVIEW: The goal of this review is to give an overview of diagnosis and up-to-date management of major pediatric metabolic bon …
Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations.
Sargar KM, Singh AK, Kao SC. Sargar KM, et al. Radiographics. 2017 Oct;37(6):1813-1830. doi: 10.1148/rg.2017170017. Radiographics. 2017. PMID: 29019756 Review.
FGFR1, FGFR2, and FGFR3 are crucial for both chondrogenesis and osteogenesis. Mutations in the genes encoding FGFRs, types 1-3, are responsible for various skeletal dysplasias and craniosynostosis syndromes. ...Some characteristics and clinical findings include premature f …
FGFR1, FGFR2, and FGFR3 are crucial for both chondrogenesis and osteogenesis. Mutations in the genes encoding FGFRs, types 1-3, are r …
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Peluso F, et al. J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. J Med Genet. 2023. PMID: 37586838 Free PMC article. Review.
We found no correlation between these structural anomalies and epilepsy or intellectual disability. Prevalent skeletal findings comprised abnormalities of the spine including scoliosis, coccygeal anomalies and cervical ribs. Hand X-rays revealed frequent abnormal …
We found no correlation between these structural anomalies and epilepsy or intellectual disability. Prevalent skeletal findings comprised …
Delineation of dual molecular diagnosis in patients with skeletal deformity.
Liu L, Sun L, Chen Y, Wang M, Yu C, Huang Y, Zhao S, Du H, Chen S, Fan X, Tian W, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group; Qiu G, Zhang TJ, Wu N. Liu L, et al. Orphanet J Rare Dis. 2022 Mar 28;17(1):139. doi: 10.1186/s13023-022-02293-x. Orphanet J Rare Dis. 2022. PMID: 35346302 Free PMC article.
BACKGROUND: Skeletal deformity is characterized by an abnormal anatomical structure of bone and cartilage. In our previous studies, we have found that a substantial proportion of patients with skeletal deformity could be explained by monogenic disorders. ...Patients …
BACKGROUND: Skeletal deformity is characterized by an abnormal anatomical structure of bone and cartilage. In our previous stu …
Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives.
Bregou Bourgeois A, Aubry-Rozier B, Bonafé L, Laurent-Applegate L, Pioletti DP, Zambelli PY. Bregou Bourgeois A, et al. Swiss Med Wkly. 2016 Jun 20;146:w14322. doi: 10.4414/smw.2016.14322. eCollection 2016. Swiss Med Wkly. 2016. PMID: 27346233 Free article.
A common issue associated with the molecular abnormality is a disturbance in bone matrix synthesis and homeostasis inducing bone fragility. In very early life, this can lead to multiple fractures and progressive bone deformities, including long bone …
A common issue associated with the molecular abnormality is a disturbance in bone matrix synthesis and homeostasis inducing …
Novel Use of an Internal Distractor for Metacarpal Lengthening.
Bashour LE, Hill C, Frommer SA, Henry SL. Bashour LE, et al. Hand (N Y). 2023 Jun;18(4):598-603. doi: 10.1177/15589447211052756. Epub 2021 Nov 5. Hand (N Y). 2023. PMID: 34738478 Free PMC article.
Internal distractors are commonly used in craniofacial reconstruction, but use in the hand has not been reported. We describe a case series of the novel use of an internal distractor in metacarpal lengthening. ...RESULTS: There were 5 cases in 4 patients (age range: 7-33 y …
Internal distractors are commonly used in craniofacial reconstruction, but use in the hand has not been reported. We describe a case …
Cranio-osteoarthropathy: a rare variant of hypertrophic osteoarthropathy.
Chen X, Zou CC, Dong GP, Liang L, Zhao ZY. Chen X, et al. Ir J Med Sci. 2012 Jun;181(2):257-61. doi: 10.1007/s11845-009-0346-0. Epub 2009 May 9. Ir J Med Sci. 2012. PMID: 19430868 Review.
A mild prominent nose, patent cranial sutures and anterior and posterior fontanel, clubbing of the digits without cyanosis, finger joint laxity, large nails, and mild knock-knee were noted. Radiographs showed wormian bones, patent cranial sutures, anterior and posterior fo …
A mild prominent nose, patent cranial sutures and anterior and posterior fontanel, clubbing of the digits without cyanosis, finger joint lax …
Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review.
Menezes AH, Traynelis VC. Menezes AH, et al. Childs Nerv Syst. 2022 Feb;38(2):361-377. doi: 10.1007/s00381-021-05409-z. Epub 2021 Nov 22. Childs Nerv Syst. 2022. PMID: 34806157 Review.
Syndromes encountered were spondyloepiphyseal dysplasia (SED) 4, spondylometaphyseal dysplasia 1, unnamed collagen abnormality syndrome 1, osteogenesis imperfecta (OI) 2, Aarskog syndrome 1, Weaver syndrome 1, Larsen syndrome 1, multiple cervical level disconnection …
Syndromes encountered were spondyloepiphyseal dysplasia (SED) 4, spondylometaphyseal dysplasia 1, unnamed collagen abnormality syndro …
Heterotopic ossification following anterior shoulder dislocation.
Patel P, Brkljac M, Sonar U, Kumar S. Patel P, et al. BMJ Case Rep. 2018 Nov 8;2018:bcr2018226968. doi: 10.1136/bcr-2018-226968. BMJ Case Rep. 2018. PMID: 30413461 Free PMC article.
Heterotopic ossification (HO) is the abnormal growth of extraskeletal bone. Joint involvement may result in chronic stiffness and pain causing considerable functional impairment and the inability to perform the activities of daily living. ...This occurred in …
Heterotopic ossification (HO) is the abnormal growth of extraskeletal bone. Joint involvement may result in chronic sti …
62 results