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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  
  • CROGVAbnormal 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

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

Supplemental Content

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