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Abnormal bone structure

MedGen UID:
871157
•Concept ID:
C4025630
•
Anatomical Abnormality
HPO: HP:0003330

Definition

Any anomaly in the composite material or the layered arrangement of the bony skeleton. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormal bone structure

Conditions with this feature

Terminal osseous dysplasia-pigmentary defects syndrome
MedGen UID:
335344
•Concept ID:
C1846129
•
Disease or Syndrome
Terminal osseous dysplasia is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy (Sun et al., 2010).
See: Condition Record
Terminal osseous dysplasia-pigmentary defects syndrome

Professional guidelines

PubMed

High serum osteoprotegerin levels in patients with hyperthyroidism: effect of medical treatment.
Amato G, Mazziotti G, Sorvillo F, Piscopo M, Lalli E, Biondi B, Iorio S, Molinari A, Giustina A, Carella C
Bone 2004 Sep;35(3):785-91. doi: 10.1016/j.bone.2004.04.021. PMID: 15336617

Recent clinical studies

Etiology

Successful complete oral rehabilitation of a patient with osteopetrosis with extensive pre-treatments, bone grafts, dental implants and fixed bridges: a multidisciplinary case report.
Kelk P, Fasth A, Holgerson P, Sjöström M
BMC Oral Health 2023 Nov 28;23(1):940. doi: 10.1186/s12903-023-03707-3. PMID: 38017429Free PMC Article
Trabecular and cortical mandibular bone investigation in familial adenomatous polyposis patients.
Pacheco-Pereira C, Silvestre-Barbosa Y, Almeida FT, Geha H, Leite AF, Guerra ENS
Sci Rep 2021 Apr 28;11(1):9143. doi: 10.1038/s41598-021-88513-z. PMID: 33911117Free PMC Article
Influence Of Angiogenic Mediators And Bone Remodelling In Paget´s Disease Of Bone.
Fuentes-Calvo I, Usategui-Martín R, Calero-Paniagua I, Moledo-Pouso C, García-Ortiz L, Pino-Montes JD, González-Sarmiento R, Martínez-Salgado C
Int J Med Sci 2018;15(11):1210-1216. Epub 2018 Jul 30 doi: 10.7150/ijms.26580. PMID: 30123059Free PMC Article
Cardiovascular risk and mineral bone disorder in patients with chronic kidney disease.
Staude H, Jeske S, Schmitz K, Warncke G, Fischer DC
Kidney Blood Press Res 2013;37(1):68-83. Epub 2013 Mar 18 doi: 10.1159/000343402. PMID: 23548827
Osteoporosis, schizophrenia and antipsychotics: the need for a comprehensive multifactorial evaluation.
Halbreich U
CNS Drugs 2007;21(8):641-57. doi: 10.2165/00023210-200721080-00003. PMID: 17630817

Diagnosis

Chronic steroid-response pancytopenia and increased bone density due to thromboxane synthase deficiency.
Sharma R, Sierra Potchanant E, Schwartz JE, Nalepa G
Pediatr Blood Cancer 2018 Jan;65(1) Epub 2017 Sep 4 doi: 10.1002/pbc.26777. PMID: 28868793
Influence of Attenuation Correction by Brain Perfusion SPECT/CT Using a Simulated Abnormal Bone Structure: Comparison Between Chang and CT Methods.
Shibutani T, Onoguchi M, Miyamoto N, Yamamoto Y, Kinuya S
J Nucl Med Technol 2017 Sep;45(3):208-213. Epub 2017 Jul 13 doi: 10.2967/jnmt.117.189506. PMID: 28705930
Congenital contractural arachnodactyly and femoral fracture in a newborn infant: a causal relationship or a coincidence?
Küpeli S, Korkmaz A, Bulun A, Yurdakök M, Tunçbilek E
Am J Perinatol 2004 Jan;21(1):41-4. doi: 10.1055/s-2004-820509. PMID: 15017482
Value of bone scan in the McCune-Albright syndrome. Report of a case.
Edeburn GF, Mortensson W
Acta Radiol Diagn (Stockh) 1986 Nov-Dec;27(6):719-21. doi: 10.1177/028418518602700618. PMID: 3812022
Limitations of bone scanning in clinical oncology.
Loeffler RK, DiSimone RN, Howland WJ
JAMA 1975 Dec 22;234(12):1228-32. PMID: 1242747

Therapy

Radiographic evaluation for AVN following distal metatarsal Stoffella bunion osteotomy.
Klein C, Zembsch A, Dorn U
Foot Ankle Int 2009 Jan;30(1):39-43. doi: 10.3113/FAI.2009.0039. PMID: 19176184
Osteoporosis, schizophrenia and antipsychotics: the need for a comprehensive multifactorial evaluation.
Halbreich U
CNS Drugs 2007;21(8):641-57. doi: 10.2165/00023210-200721080-00003. PMID: 17630817
High serum osteoprotegerin levels in patients with hyperthyroidism: effect of medical treatment.
Amato G, Mazziotti G, Sorvillo F, Piscopo M, Lalli E, Biondi B, Iorio S, Molinari A, Giustina A, Carella C
Bone 2004 Sep;35(3):785-91. doi: 10.1016/j.bone.2004.04.021. PMID: 15336617
Therapeutic strategy in Paget's disease of bone.
Meunier PJ, Vignot E
Bone 1995 Nov;17(5 Suppl):489S-491S. doi: 10.1016/8756-3282(95)00260-2. PMID: 8573424

Prognosis

Chronic steroid-response pancytopenia and increased bone density due to thromboxane synthase deficiency.
Sharma R, Sierra Potchanant E, Schwartz JE, Nalepa G
Pediatr Blood Cancer 2018 Jan;65(1) Epub 2017 Sep 4 doi: 10.1002/pbc.26777. PMID: 28868793
Radiographic evaluation for AVN following distal metatarsal Stoffella bunion osteotomy.
Klein C, Zembsch A, Dorn U
Foot Ankle Int 2009 Jan;30(1):39-43. doi: 10.3113/FAI.2009.0039. PMID: 19176184
High serum osteoprotegerin levels in patients with hyperthyroidism: effect of medical treatment.
Amato G, Mazziotti G, Sorvillo F, Piscopo M, Lalli E, Biondi B, Iorio S, Molinari A, Giustina A, Carella C
Bone 2004 Sep;35(3):785-91. doi: 10.1016/j.bone.2004.04.021. PMID: 15336617
Molecular cloning of (25-OH D)-1 alpha-hydroxylase: an approach to the understanding of vitamin D pseudo-deficiency.
Glorieux FH, St-Arnaud R
Recent Prog Horm Res 1998;53:341-9; discussion 350. PMID: 9769714
Therapeutic strategy in Paget's disease of bone.
Meunier PJ, Vignot E
Bone 1995 Nov;17(5 Suppl):489S-491S. doi: 10.1016/8756-3282(95)00260-2. PMID: 8573424

Clinical prediction guides

Influence Of Angiogenic Mediators And Bone Remodelling In Paget´s Disease Of Bone.
Fuentes-Calvo I, Usategui-Martín R, Calero-Paniagua I, Moledo-Pouso C, García-Ortiz L, Pino-Montes JD, González-Sarmiento R, Martínez-Salgado C
Int J Med Sci 2018;15(11):1210-1216. Epub 2018 Jul 30 doi: 10.7150/ijms.26580. PMID: 30123059Free PMC Article
Chronic steroid-response pancytopenia and increased bone density due to thromboxane synthase deficiency.
Sharma R, Sierra Potchanant E, Schwartz JE, Nalepa G
Pediatr Blood Cancer 2018 Jan;65(1) Epub 2017 Sep 4 doi: 10.1002/pbc.26777. PMID: 28868793

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