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Abnormal trabecular bone morphology

MedGen UID:
866611
Concept ID:
C4020957
Anatomical Abnormality
Synonyms: Abnormal shape of spongy bone; Abnormality of bone trabeculation
 
HPO: HP:0100671

Definition

Abnormal structure or form of trabecular bone. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal trabecular bone morphology

Conditions with this feature

Autosomal recessive osteopetrosis 7
MedGen UID:
436770
Concept ID:
C2676766
Disease or Syndrome
Other features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy).\n\nAutosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood.\n\nIn individuals with ADO who develop signs and symptoms, the major features of the condition include multiple bone fractures after minor injury, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence.\n\nAutosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In affected people with no symptoms, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. \n\nOsteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.\n\nA few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.

Professional guidelines

PubMed

Fratzl-Zelman N, Linglart A, Bin K, Rauch F, Blouin S, Coutant R, Donzeau A
Eur J Med Genet 2023 Nov;66(11):104856. Epub 2023 Sep 25 doi: 10.1016/j.ejmg.2023.104856. PMID: 37758163
Shayota BJ, Zhang C, Shypailo RJ, Mazzeu JF, Carvalho CMB, Sutton VR
Am J Med Genet A 2020 Nov;182(11):2632-2640. Epub 2020 Sep 5 doi: 10.1002/ajmg.a.61843. PMID: 32888393
Paparo F, Fabbro E, Piccazzo R, Revelli M, Ferrero G, Muda A, Cimmino MA, Garlaschi G
Radiol Med 2012 Dec;117(8):1355-73. Epub 2012 Sep 17 doi: 10.1007/s11547-012-0875-x. PMID: 22986695

Recent clinical studies

Etiology

Pignolo RJ
Compr Physiol 2023 Jan 30;13(1):4355-4386. doi: 10.1002/cphy.c220012. PMID: 36715278
Kimmel DB, Vennin S, Desyatova A, Turner JA, Akhter MP, Lappe JM, Recker RR
Osteoporos Int 2022 May;33(5):1125-1136. Epub 2022 Jan 15 doi: 10.1007/s00198-022-06308-y. PMID: 35034156
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
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
Keronen S, Martola L, Finne P, Burton IS, Kauppila L, Kröger H, Larsson TE, Honkanen E
Clin Nephrol 2016 Mar;85(3):127-34. doi: 10.5414/CN108709. PMID: 26833298

Diagnosis

Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
McNerny EMB, Nickolas TL
Curr Osteoporos Rep 2017 Jun;15(3):207-213. doi: 10.1007/s11914-017-0366-z. PMID: 28447312Free PMC Article
Diamond T, Elder GJ
Nephrology (Carlton) 2017 Mar;22 Suppl 2:22-26. doi: 10.1111/nep.13017. PMID: 28429554
Pollice S, Muto M, Scarabino T
Eur J Radiol 2015 May;84(5):799-806. Epub 2014 Jun 30 doi: 10.1016/j.ejrad.2014.06.010. PMID: 25017151
Evans RA, Hughes WG, Dunstan CR, Lennon WP, Kohan L, Hills E, Wong SY
Metab Bone Dis Relat Res 1983-1984;5(3):111-7. doi: 10.1016/0221-8747(83)90011-5. PMID: 6676625

Therapy

Lau YK, Peck SH, Arginteanu T, Wu M, Lin M, Shore EM, Klein PS, Casal ML, Smith LJ
Bone 2022 Jan;154:116237. Epub 2021 Oct 22 doi: 10.1016/j.bone.2021.116237. PMID: 34695616Free PMC Article
Uglow MG
Foot Ankle Clin 2016 Sep;21(3):577-94. Epub 2016 Jun 29 doi: 10.1016/j.fcl.2016.04.005. PMID: 27524707
Burnham JM
Curr Opin Rheumatol 2012 Sep;24(5):548-53. doi: 10.1097/BOR.0b013e328356b0c2. PMID: 22832825
Kurihara N, Zhou H, Reddy SV, Garcia Palacios V, Subler MA, Dempster DW, Windle JJ, Roodman GD
J Bone Miner Res 2006 Dec;21 Suppl 2:P55-7. doi: 10.1359/jbmr.06s210. PMID: 17229020
Pardanani A
Acta Haematol 2005;114(1):41-51. doi: 10.1159/000085561. PMID: 15995324

Prognosis

Gazzotti S, Sassi R, Aparisi Gómez MP, Moroni A, Brizola E, Miceli M, Bazzocchi A
Eur J Med Genet 2024 Apr;68:104926. Epub 2024 Feb 16 doi: 10.1016/j.ejmg.2024.104926. PMID: 38369057
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
Diamond T, Elder GJ
Nephrology (Carlton) 2017 Mar;22 Suppl 2:22-26. doi: 10.1111/nep.13017. PMID: 28429554
Keronen S, Martola L, Finne P, Burton IS, Kauppila L, Kröger H, Larsson TE, Honkanen E
Clin Nephrol 2016 Mar;85(3):127-34. doi: 10.5414/CN108709. PMID: 26833298
Leonard MB
Semin Nephrol 2009 Mar;29(2):133-43. doi: 10.1016/j.semnephrol.2009.01.006. PMID: 19371804Free PMC Article

Clinical prediction guides

Kimmel DB, Vennin S, Desyatova A, Turner JA, Akhter MP, Lappe JM, Recker RR
Osteoporos Int 2022 May;33(5):1125-1136. Epub 2022 Jan 15 doi: 10.1007/s00198-022-06308-y. PMID: 35034156
Han X, Cui J, Chu L, Zhang W, Xie K, Jiang X, He Z, Du J, Ai S, Sun Q, Wang L, Wu H, Yan M, Yu Z
Osteoarthritis Cartilage 2022 Jan;30(1):100-109. Epub 2021 Oct 23 doi: 10.1016/j.joca.2021.10.005. PMID: 34699993
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article
Diamond T, Elder GJ
Nephrology (Carlton) 2017 Mar;22 Suppl 2:22-26. doi: 10.1111/nep.13017. PMID: 28429554
Evans RA, Hughes WG, Dunstan CR, Lennon WP, Kohan L, Hills E, Wong SY
Metab Bone Dis Relat Res 1983-1984;5(3):111-7. doi: 10.1016/0221-8747(83)90011-5. PMID: 6676625

Recent systematic reviews

Ma T, Wang Y, Ma J, Cui H, Feng X, Ma X
J Orthop Surg Res 2024 Apr 26;19(1):265. doi: 10.1186/s13018-024-04748-2. PMID: 38671500Free PMC Article
Steer K, Stavnichuk M, Morris M, Komarova SV
J Bone Miner Res 2017 Apr;32(4):731-742. Epub 2016 Nov 30 doi: 10.1002/jbmr.3026. PMID: 27787922
Thiryayi WA, Thiryayi SA, Freemont AJ
Eur J Radiol 2008 Jul;67(1):62-7. Epub 2008 Mar 12 doi: 10.1016/j.ejrad.2008.01.056. PMID: 18337044

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