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Thin long bone diaphyses

MedGen UID:
395265
Concept ID:
C1859449
Finding
Synonyms: Thin diaphyses of long bones; Thin shaft of long bone
 
HPO: HP:0006470

Definition

Decreased width of the diaphysis of long bones. [from HPO]

Term Hierarchy

Conditions with this feature

Osteogenesis imperfecta type 17
MedGen UID:
903845
Concept ID:
C4225301
Disease or Syndrome
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.\n\nThere are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX. Several types are distinguished by their signs and symptoms, although their characteristic features overlap. Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe. Other types of this condition, including types III (progressively deforming osteogenesis imperfecta) and IV (common variable osteogenesis imperfecta with normal sclerae), have signs and symptoms that fall somewhere between these two extremes.\n\nThe milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma, such as falling while learning to walk. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and about half develop hearing loss in adulthood. Unlike more severely affected individuals, people with type I are usually of normal or near normal height.\n\nOther types of osteogenesis imperfecta are more severe, causing frequent bone fractures that are present at birth and result from little or no trauma. Additional features of these types can include blue sclerae of the eyes, short stature, curvature of the spine (scoliosis), joint deformities (contractures), hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. Mobility can be reduced in affected individuals, and some may use a walker or wheelchair. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities may have life-threatening problems with breathing and can die shortly after birth.

Recent clinical studies

Etiology

Müller R, Steffensen T, Krstić N, Cain MA
Am J Med Genet A 2021 Jun;185(6):1903-1907. Epub 2021 Mar 22 doi: 10.1002/ajmg.a.62182. PMID: 33750016
Pasquier GJM, Huten D, Common H, Migaud H, Putman S
Orthop Traumatol Surg Res 2020 Feb;106(1S):S135-S147. Epub 2019 Dec 4 doi: 10.1016/j.otsr.2019.05.025. PMID: 31812635
Steiger CN, Journeau P, Lascombes P
Orthop Traumatol Surg Res 2017 Nov;103(7):1115-1120. Epub 2017 Aug 2 doi: 10.1016/j.otsr.2017.05.027. PMID: 28780005
Mäkitie RE, Haanpää M, Valta H, Pekkinen M, Laine CM, Lehesjoki AE, Schalin-Jäntti C, Mäkitie O
J Bone Miner Res 2016 Sep;31(9):1734-42. Epub 2016 Apr 25 doi: 10.1002/jbmr.2841. PMID: 27005318
Yalcinkaya M, Akman YE, Bagatur AE
Orthopedics 2015 Jul 1;38(7):e647-50. doi: 10.3928/01477447-20150701-92. PMID: 26186330

Diagnosis

Müller R, Steffensen T, Krstić N, Cain MA
Am J Med Genet A 2021 Jun;185(6):1903-1907. Epub 2021 Mar 22 doi: 10.1002/ajmg.a.62182. PMID: 33750016
Subramanyam P, Palaniswamy SS
Clin Nucl Med 2020 Dec;45(12):986-988. doi: 10.1097/RLU.0000000000003294. PMID: 33031247
Demir K, Altıncık A, Böber E
J Pediatr Endocrinol Metab 2013;26(1-2):147-50. doi: 10.1515/jpem-2012-0239. PMID: 23457316
Mégarbané A
Am J Med Genet A 2007 Aug 1;143A(15):1782-7. doi: 10.1002/ajmg.a.31820. PMID: 17618475
Chen H, Blackburn WR, Wertelecki W
Am J Med Genet 1995 Feb 13;55(4):472-7. doi: 10.1002/ajmg.1320550416. PMID: 7762589

Prognosis

Travessa AM, Dias P, Rosmaninho-Salgado J, Aza-Carmona M, Moldovan O, Díaz-González F, Godinho F, Romeu JC, Oliveira-Ramos F, do Céu Barreiros M, Sousa SB, Heath KE, Sousa AB
Eur J Med Genet 2023 Nov;66(11):104867. Epub 2023 Oct 13 doi: 10.1016/j.ejmg.2023.104867. PMID: 37839784
Steiger CN, Journeau P, Lascombes P
Orthop Traumatol Surg Res 2017 Nov;103(7):1115-1120. Epub 2017 Aug 2 doi: 10.1016/j.otsr.2017.05.027. PMID: 28780005
Yalcinkaya M, Akman YE, Bagatur AE
Orthopedics 2015 Jul 1;38(7):e647-50. doi: 10.3928/01477447-20150701-92. PMID: 26186330
Demir K, Altıncık A, Böber E
J Pediatr Endocrinol Metab 2013;26(1-2):147-50. doi: 10.1515/jpem-2012-0239. PMID: 23457316
Cowin SC
J Biomech 1987;20(11-12):1111-20. doi: 10.1016/0021-9290(87)90028-5. PMID: 3429457

Clinical prediction guides

Ludwig K, Ward LM, Khan N, Robinson ME, Miranda V, Bardai G, Moffatt P, Rauch F
Bone 2022 Jul;160:116400. Epub 2022 Mar 31 doi: 10.1016/j.bone.2022.116400. PMID: 35367406
Cummaudo M, Cappella A, Biraghi M, Raffone C, Màrquez-Grant N, Cattaneo C
Int J Legal Med 2018 Sep;132(5):1493-1503. Epub 2018 Jan 20 doi: 10.1007/s00414-018-1781-0. PMID: 29352750
Demir K, Altıncık A, Böber E
J Pediatr Endocrinol Metab 2013;26(1-2):147-50. doi: 10.1515/jpem-2012-0239. PMID: 23457316
Watts GD, Mehta SG, Zhao C, Ramdeen S, Hamilton SJ, Novack DV, Mumm S, Whyte MP, Mc Gillivray B, Kimonis VE
Hum Genet 2005 Dec;118(3-4):508-14. Epub 2005 Oct 22 doi: 10.1007/s00439-005-0075-z. PMID: 16244874
Yamamoto T, Mizuno K, Hanioka K
Pathol Int 2000 Mar;50(3):255-7. doi: 10.1046/j.1440-1827.2000.01034.x. PMID: 10792791

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