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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

Bargiela M, Kueper J, Serebrakian AT, Browne MR, Brogna S, Peacock ZS, Bojovic B, Shaw ND, Liao EC
J Craniofac Surg 2023 May 1;34(3):849-854. Epub 2023 Mar 22 doi: 10.1097/SCS.0000000000009261. PMID: 36944600Free PMC Article
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
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
Tamhankar PM, Vasudevan L, Kondurkar S, Yashaswini K, Agarwalla SK, Nair M, Ramkumar TV, Chaubal N, Chennuri VS
J Clin Res Pediatr Endocrinol 2014;6(2):79-83. doi: 10.4274/Jcrpe.1233. PMID: 24932600Free PMC Article

Therapy

Pahys JM, Guille JT
J Pediatr Orthop 2018 Mar;38(3):e172-e179. doi: 10.1097/BPO.0000000000000922. PMID: 28009797
Ameri E, Fouladi DF, Safari MB, Tari HV, Ghandhari H
Clin Spine Surg 2017 May;30(4):E485-E490. doi: 10.1097/BSD.0000000000000275. PMID: 28437357
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
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
Chernoff N, Rogers JM
J Toxicol Environ Health B Crit Rev 2004 Nov-Dec;7(6):437-49. doi: 10.1080/10937400490512447. PMID: 15586878

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
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
Merks JH, Smets AM, Van Rijn RR, Kobes J, Caron HN, Maas M, Hennekam RC
Eur J Med Genet 2005 Apr-Jun;48(2):113-29. Epub 2005 Feb 12 doi: 10.1016/j.ejmg.2005.01.029. PMID: 16053903
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

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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