U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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).

Professional guidelines

PubMed

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

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
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
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
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
Halbreich U
CNS Drugs 2007;21(8):641-57. doi: 10.2165/00023210-200721080-00003. PMID: 17630817

Diagnosis

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
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
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
Edeburn GF, Mortensson W
Acta Radiol Diagn (Stockh) 1986 Nov-Dec;27(6):719-21. doi: 10.1177/028418518602700618. PMID: 3812022
Loeffler RK, DiSimone RN, Howland WJ
JAMA 1975 Dec 22;234(12):1228-32. PMID: 1242747

Therapy

Klein C, Zembsch A, Dorn U
Foot Ankle Int 2009 Jan;30(1):39-43. doi: 10.3113/FAI.2009.0039. PMID: 19176184
Halbreich U
CNS Drugs 2007;21(8):641-57. doi: 10.2165/00023210-200721080-00003. PMID: 17630817
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
Meunier PJ, Vignot E
Bone 1995 Nov;17(5 Suppl):489S-491S. doi: 10.1016/8756-3282(95)00260-2. PMID: 8573424

Prognosis

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
Klein C, Zembsch A, Dorn U
Foot Ankle Int 2009 Jan;30(1):39-43. doi: 10.3113/FAI.2009.0039. PMID: 19176184
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
Glorieux FH, St-Arnaud R
Recent Prog Horm Res 1998;53:341-9; discussion 350. PMID: 9769714
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

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
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

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...