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Angulated humerus

MedGen UID:
871081
Concept ID:
C4025546
Finding
Synonym: Angulated long bone in upper arm
 
HPO: HP:0003863

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAngulated humerus

Conditions with this feature

Osteogenesis imperfecta type 13
MedGen UID:
766801
Concept ID:
C3553887
Disease or Syndrome
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.
Osteogenesis imperfecta type 16
MedGen UID:
864047
Concept ID:
C4015610
Disease or Syndrome
Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae (Keller et al., 2018; Lindahl et al., 2018).

Professional guidelines

PubMed

Spek RWA, Hoogervorst LA, Elias MEC, Jaarsma RL, Veeger DHEJ, Doornberg JN, Jutte PC, van den Bekerom MPJ
Arch Orthop Trauma Surg 2023 Jun;143(6):3119-3128. Epub 2022 Jul 16 doi: 10.1007/s00402-022-04545-8. PMID: 35840714Free PMC Article
Gladstein AZ, Schade AT, Howard AW, Camp MW
Orthop Traumatol Surg Res 2017 Feb;103(1):115-118. Epub 2016 Nov 25 doi: 10.1016/j.otsr.2016.09.022. PMID: 27894835
Binder H, Tiefenboeck TM, Payr S, Schurz M, Aldrian S, Sarahrudi K
Wien Klin Wochenschr 2016 Feb;128(3-4):120-4. Epub 2015 Nov 6 doi: 10.1007/s00508-015-0879-3. PMID: 26546351

Recent clinical studies

Etiology

Song HR, Song MH
Clin Orthop Surg 2023 Dec;15(6):1022-1028. Epub 2023 Oct 16 doi: 10.4055/cios23077. PMID: 38045578Free PMC Article
Pidhorz L
Orthop Traumatol Surg Res 2015 Feb;101(1 Suppl):S41-9. Epub 2015 Jan 17 doi: 10.1016/j.otsr.2014.07.034. PMID: 25604002
Lefèvre Y, Journeau P, Angelliaume A, Bouty A, Dobremez E
Orthop Traumatol Surg Res 2014 Feb;100(1 Suppl):S149-56. Epub 2014 Jan 4 doi: 10.1016/j.otsr.2013.06.010. PMID: 24394917
Hertel R, Hempfing A, Stiehler M, Leunig M
J Shoulder Elbow Surg 2004 Jul-Aug;13(4):427-33. doi: 10.1016/j.jse.2004.01.034. PMID: 15220884
Damsin JP, Ghanem I
Hand Clin 2000 Nov;16(4):685-701. PMID: 11117057

Diagnosis

Kaçmaz İE, Basa CD, Zhamilov V, Reisoğlu A, Akan İ, Ağuş H
J Pediatr Orthop B 2019 Nov;28(6):515-519. doi: 10.1097/BPB.0000000000000620. PMID: 30855549
King EC, Ihnow SB
J Pediatr Orthop 2016 Jun;36 Suppl 1:S44-8. doi: 10.1097/BPO.0000000000000768. PMID: 27100038
Pidhorz L
Orthop Traumatol Surg Res 2015 Feb;101(1 Suppl):S41-9. Epub 2015 Jan 17 doi: 10.1016/j.otsr.2014.07.034. PMID: 25604002
Lefèvre Y, Journeau P, Angelliaume A, Bouty A, Dobremez E
Orthop Traumatol Surg Res 2014 Feb;100(1 Suppl):S149-56. Epub 2014 Jan 4 doi: 10.1016/j.otsr.2013.06.010. PMID: 24394917
Hertel R, Hempfing A, Stiehler M, Leunig M
J Shoulder Elbow Surg 2004 Jul-Aug;13(4):427-33. doi: 10.1016/j.jse.2004.01.034. PMID: 15220884

Therapy

King EC, Ihnow SB
J Pediatr Orthop 2016 Jun;36 Suppl 1:S44-8. doi: 10.1097/BPO.0000000000000768. PMID: 27100038
Malot R, Park KW, Song SH, Kwon HN, Song HR
Acta Orthop 2013 Jun;84(3):280-5. Epub 2013 Mar 19 doi: 10.3109/17453674.2013.786636. PMID: 23506166Free PMC Article
Slobogean BL, Jackman H, Tennant S, Slobogean GP, Mulpuri K
J Pediatr Orthop 2010 Jul-Aug;30(5):430-6. doi: 10.1097/BPO.0b013e3181e00c0d. PMID: 20574258
Sabo MT, Fay K, McDonald CP, Ferreira LM, Johnson JA, King GJ
J Shoulder Elbow Surg 2010 Jul;19(5):670-80. Epub 2010 Apr 24 doi: 10.1016/j.jse.2010.02.002. PMID: 20421172
Damsin JP, Ghanem I
Hand Clin 2000 Nov;16(4):685-701. PMID: 11117057

Prognosis

Gottschalk HP, Hughes Garza H, Barczyk AN, Duzinski SV, Lawson KA
J Pediatr Orthop 2022 Sep 1;42(8):413-420. Epub 2022 Jul 15 doi: 10.1097/BPO.0000000000002211. PMID: 35834375
Pidhorz L
Orthop Traumatol Surg Res 2015 Feb;101(1 Suppl):S41-9. Epub 2015 Jan 17 doi: 10.1016/j.otsr.2014.07.034. PMID: 25604002
Lefèvre Y, Journeau P, Angelliaume A, Bouty A, Dobremez E
Orthop Traumatol Surg Res 2014 Feb;100(1 Suppl):S149-56. Epub 2014 Jan 4 doi: 10.1016/j.otsr.2013.06.010. PMID: 24394917
Hertel R, Hempfing A, Stiehler M, Leunig M
J Shoulder Elbow Surg 2004 Jul-Aug;13(4):427-33. doi: 10.1016/j.jse.2004.01.034. PMID: 15220884
Fowles JV, Kassab MT
J Pediatr Orthop 1986 Jan-Feb;6(1):51-7. PMID: 3941181

Clinical prediction guides

Shah IA, Khan ZA, Afzal I, Khan Z, Shah JA, Butt U
J Pak Med Assoc 2022 Nov;72(11):2291-2294. doi: 10.47391/JPMA.4263. PMID: 37013305
Usoro AO, Bhashyam A, Mohamadi A, Dyer GS, Zirkle L, von Keudell A
J Orthop Trauma 2019 Jan;33(1):42-48. doi: 10.1097/BOT.0000000000001328. PMID: 30277978
Hohloch L, Eberbach H, Wagner FC, Strohm PC, Reising K, Südkamp NP, Zwingmann J
PLoS One 2017;12(8):e0183157. Epub 2017 Aug 24 doi: 10.1371/journal.pone.0183157. PMID: 28837601Free PMC Article
Binder H, Tiefenboeck TM, Payr S, Schurz M, Aldrian S, Sarahrudi K
Wien Klin Wochenschr 2016 Feb;128(3-4):120-4. Epub 2015 Nov 6 doi: 10.1007/s00508-015-0879-3. PMID: 26546351
Hertel R, Hempfing A, Stiehler M, Leunig M
J Shoulder Elbow Surg 2004 Jul-Aug;13(4):427-33. doi: 10.1016/j.jse.2004.01.034. PMID: 15220884

Recent systematic reviews

Song HR, Song MH
Clin Orthop Surg 2023 Dec;15(6):1022-1028. Epub 2023 Oct 16 doi: 10.4055/cios23077. PMID: 38045578Free PMC Article
Usoro AO, Bhashyam A, Mohamadi A, Dyer GS, Zirkle L, von Keudell A
J Orthop Trauma 2019 Jan;33(1):42-48. doi: 10.1097/BOT.0000000000001328. PMID: 30277978
Hohloch L, Eberbach H, Wagner FC, Strohm PC, Reising K, Südkamp NP, Zwingmann J
PLoS One 2017;12(8):e0183157. Epub 2017 Aug 24 doi: 10.1371/journal.pone.0183157. PMID: 28837601Free PMC Article
Slobogean BL, Jackman H, Tennant S, Slobogean GP, Mulpuri K
J Pediatr Orthop 2010 Jul-Aug;30(5):430-6. doi: 10.1097/BPO.0b013e3181e00c0d. PMID: 20574258

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