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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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Abnormal bone structure

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the skeletal system
    - Abnormal skeletal morphology
      - Abnormal bone structure
        Abnormal bone collagen fibril morphology
        Type 1 collagen overmodification
        Abnormal bone ossification
        Abnormal enchondral ossification
        Abnormal epiphyseal ossification
        Abnormal foot bone ossification
        Abnormal humeral ossification
        Abnormal pelvis bone ossification
        Abnormal rib ossification
        Abnormal sternal ossification
        Calcific stippling of infantile cartilaginous skeleton
        Delayed patellar ossification
        Abnormal intramembranous ossification
        Abnormality of bone mineral density
        Abnormal tarsal bone mineral density
        Increased bone mineral density
        Patchy changes of bone mineral density
        Reduced bone mineral density
        Decreased skull ossification
        Decreased calvarial ossification
        Decreased cranial base ossification
        Ectopic ossification
        Ectopic ossification in ligament tissue
        Ectopic ossification in muscle tissue
        Ectopic ossification in tendon tissue
        Ossification of posterior longitudinal ligament
        Soft-tissue ossification around the shoulders
        Subcutaneous ossification
        Abnormal cortical bone morphology
        Abnormality of foot cortical bone
        Cortical thinning of foot bones
        Cortical irregularity
        Pseudo-fractures
        Thickened cortex of bones
        Cortical thickening of hand bones
        Thickened cortex of long bones
        Thin bony cortex
        Abnormal osteoclast count
        Decreased osteoclast count
        Abnormal periosteum morphology
        Metacarpal periosteal thickening
        Metatarsal periosteal thickening
        Periosteal thickening of long tubular bones
        Periostitis
        Periostosis
        Periosteal new bone of humeral diaphysis
        Periosteal new bone of humerus
        Proximal phalangeal periosteal thickening
        Subperiosteal bone formation
        Abnormal trabecular bone morphology
        Coarse metaphyseal trabecularization
        Sparse bone trabeculae
        Bone cyst
        Aneurysmal bone cyst
        Cystic angiomatosis of bone
        Multiple bony cystic lesions
        Unicameral bone cyst
        Bone Paget disease
        Hyperphosphatasemia with bone disease
        Sternal Paget Disease
        Constricted radius
        Dysplastic patella
        Fibrous dysplasia
        Craniofacial Fibrous Dysplasia
        Fibrous dysplasia of jaw
        Monostotic fibrous dysplasia
        Polyostotic fibrous dysplasia of bone
        Osteolysis
        Disappearing bone disease
        Mandibular osteolysis
        Osteolytic defects of the phalanges of the hand
        Hajdu-Cheney syndrome
        Osteolytic defect of thumb phalanx
        Osteolytic defects of the phalanges of the 2nd finger
        Osteolytic defects of the phalanges of the 3rd finger
        Osteolytic defects of the phalanges of the 4th finger
        Osteolytic defects of the phalanges of the 5th finger
        Progressive clavicular acroosteolysis
        Rib osteolysis
        Radial dysplasia
        Asymmetric radial dysplasia

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

See all (1)

Recent clinical studies

Etiology

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: 33911117 Free 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: 30123059 Free 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

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

See all (8)

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

See all (5)

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

See all (4)

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

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

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

See all (6)