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Rib segmentation abnormalities

MedGen UID:
369388
Concept ID:
C1968999
Finding
HPO: HP:0006655

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRib segmentation abnormalities

Conditions with this feature

Congenital elevation of scapula
MedGen UID:
56291
Concept ID:
C0152438
Congenital Abnormality
A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).
4p partial monosomy syndrome
MedGen UID:
408255
Concept ID:
C1956097
Disease or Syndrome
Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).

Professional guidelines

PubMed

Menezes AH, Dlouhy BJ
Childs Nerv Syst 2020 May;36(5):975-985. Epub 2020 Jan 4 doi: 10.1007/s00381-019-04488-3. PMID: 31901967
Yazici M, Emans J
Spine (Phila Pa 1976) 2009 Aug 1;34(17):1800-7. doi: 10.1097/BRS.0b013e3181978ec9. PMID: 19644331
Landry GJ, Liem TK
Vascular 2007 Sep-Oct;15(5):290-6. doi: 10.2310/6670.2007.00064. PMID: 17976329

Recent clinical studies

Etiology

Li G, Strong A, Wang H, Kim JS, Watson D, Zhao S, Vaccaro C, Hartung E, Hakonarson H, Zhang TJ, Giampietro PF, Wu N
Am J Med Genet A 2022 Dec;188(12):3469-3481. Epub 2022 Sep 26 doi: 10.1002/ajmg.a.62972. PMID: 36161696Free PMC Article
Schlager B, Krump F, Boettinger J, Jonas R, Liebsch C, Ruf M, Beer M, Wilke HJ
J Anat 2022 Jan;240(1):120-130. Epub 2021 Aug 3 doi: 10.1111/joa.13528. PMID: 34346505Free PMC Article
Hou D, Kang N, Yin P, Hai Y
Int Orthop 2018 Mar;42(3):575-581. Epub 2018 Jan 31 doi: 10.1007/s00264-018-3805-2. PMID: 29387915
Alshammari DM, Talon I, Rod J, Schneider A, Lavrand F, Piolat C, Gelas T, Hameury F, Sica M, Gicquel P, Flaum V, Becmeur F
J Laparoendosc Adv Surg Tech A 2018 Jan;28(1):106-110. Epub 2017 Oct 26 doi: 10.1089/lap.2017.0131. PMID: 29072964
Xue X, Shen J, Zhang J, Tian Y, Zhao H, Wang Y, Liang J, Li Z, Qiu G
Spine (Phila Pa 1976) 2014 Nov 1;39(23):E1353-8. doi: 10.1097/BRS.0000000000000587. PMID: 25202932

Diagnosis

Jin R, Wang M, Xu L, Lu J, Song E, Ma G
Med Phys 2023 Apr;50(4):2100-2120. Epub 2022 Dec 13 doi: 10.1002/mp.16116. PMID: 36413182
Hou D, Kang N, Yin P, Hai Y
Int Orthop 2018 Mar;42(3):575-581. Epub 2018 Jan 31 doi: 10.1007/s00264-018-3805-2. PMID: 29387915
Alshammari DM, Talon I, Rod J, Schneider A, Lavrand F, Piolat C, Gelas T, Hameury F, Sica M, Gicquel P, Flaum V, Becmeur F
J Laparoendosc Adv Surg Tech A 2018 Jan;28(1):106-110. Epub 2017 Oct 26 doi: 10.1089/lap.2017.0131. PMID: 29072964
Aignătoaei AM, Moldoveanu CE, Căruntu ID, Giușcă SE, Partene Vicoleanu S, Nedelcu AH
Folia Morphol (Warsz) 2018;77(2):386-392. Epub 2017 Sep 4 doi: 10.5603/FM.a2017.0080. PMID: 28868608
Landry GJ, Liem TK
Vascular 2007 Sep-Oct;15(5):290-6. doi: 10.2310/6670.2007.00064. PMID: 17976329

Therapy

Pahys JM, Guille JT
J Pediatr Orthop 2018 Mar;38(3):e172-e179. doi: 10.1097/BPO.0000000000000922. PMID: 28009797
Minatoya K, Seike Y, Itonaga T, Oda T, Inoue Y, Kawamoto N, Miura S, Tanaka H, Sasaki H, Kobayashi J
Interact Cardiovasc Thorac Surg 2016 Sep;23(3):367-70. Epub 2016 May 21 doi: 10.1093/icvts/ivw140. PMID: 27209533
Yazici M, Emans J
Spine (Phila Pa 1976) 2009 Aug 1;34(17):1800-7. doi: 10.1097/BRS.0b013e3181978ec9. PMID: 19644331
Landry GJ, Liem TK
Vascular 2007 Sep-Oct;15(5):290-6. doi: 10.2310/6670.2007.00064. PMID: 17976329
Chernoff N, Rogers JM
J Toxicol Environ Health B Crit Rev 2004 Nov-Dec;7(6):437-49. doi: 10.1080/10937400490512447. PMID: 15586878

Prognosis

Hou D, Kang N, Yin P, Hai Y
Int Orthop 2018 Mar;42(3):575-581. Epub 2018 Jan 31 doi: 10.1007/s00264-018-3805-2. PMID: 29387915
Minatoya K, Seike Y, Itonaga T, Oda T, Inoue Y, Kawamoto N, Miura S, Tanaka H, Sasaki H, Kobayashi J
Interact Cardiovasc Thorac Surg 2016 Sep;23(3):367-70. Epub 2016 May 21 doi: 10.1093/icvts/ivw140. PMID: 27209533
Nuara MJ, Loch RB, Saxon SA
JAMA Facial Plast Surg 2016 May 1;18(3):207-11. doi: 10.1001/jamafacial.2015.2251. PMID: 26892673
Bairdain S, Foker JE, Smithers CJ, Hamilton TE, Labow BI, Baird CW, Taghinia AH, Feins N, Manfredi M, Jennings RW
J Am Coll Surg 2016 Jun;222(6):1001-8. Epub 2015 Dec 13 doi: 10.1016/j.jamcollsurg.2015.12.001. PMID: 26774491
Ghandhari H, Tari HV, Ameri E, Safari MB, Fouladi DF
Eur Spine J 2015 Jul;24(7):1510-21. Epub 2015 Mar 3 doi: 10.1007/s00586-015-3833-1. PMID: 25733202

Clinical prediction guides

Jin R, Wang M, Xu L, Lu J, Song E, Ma G
Med Phys 2023 Apr;50(4):2100-2120. Epub 2022 Dec 13 doi: 10.1002/mp.16116. PMID: 36413182
Mavrommatis S, LaRoque MC, Cole PA
JBJS Case Connect 2022 Apr 1;12(2) Epub 2022 May 4 doi: 10.2106/JBJS.CC.22.00037. PMID: 36099494
Schlager B, Krump F, Boettinger J, Jonas R, Liebsch C, Ruf M, Beer M, Wilke HJ
J Anat 2022 Jan;240(1):120-130. Epub 2021 Aug 3 doi: 10.1111/joa.13528. PMID: 34346505Free PMC Article
Nuara MJ, Loch RB, Saxon SA
JAMA Facial Plast Surg 2016 May 1;18(3):207-11. doi: 10.1001/jamafacial.2015.2251. PMID: 26892673
Williams MS
Am J Med Genet A 2003 Aug 1;120A(4):583-7. doi: 10.1002/ajmg.a.20091. PMID: 12884444

Recent systematic reviews

Wang L, Mizumoto S, Zhang R, Zhang Y, Liu Y, Cheng W, Li X, Dan M, Zhang C, Gao X, Wang J, Han J, Jiao L, Wang Y, Jin Q, Yang L, Li C, Li S, Zhu J, Jiang H, Nishimura G, Yamada T, Yamada S, Cai N, Qiang R, Guo L
J Hum Genet 2024 Jul;69(7):321-327. Epub 2024 Apr 2 doi: 10.1038/s10038-024-01248-3. PMID: 38565611
Albano S, Brown NJ, Pennington Z, Nguyen A, Hsu TI, Pham MH, Oh MY
World Neurosurg 2024 Jun;186:e54-e64. Epub 2024 Feb 11 doi: 10.1016/j.wneu.2024.02.033. PMID: 38350597

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