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Superior rib anomalies

MedGen UID:
870675
Concept ID:
C4025129
Anatomical Abnormality
HPO: HP:0005820

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSuperior rib anomalies

Conditions with this feature

Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
MedGen UID:
334557
Concept ID:
C1843994
Disease or Syndrome
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.

Professional guidelines

PubMed

Bulstrode NW, Lese I, Aldabbas M, Glover M, Robertson F, Rennie A
J Plast Reconstr Aesthet Surg 2021 Jul;74(7):1574-1581. Epub 2020 Nov 21 doi: 10.1016/j.bjps.2020.11.018. PMID: 33293245

Recent clinical studies

Etiology

Ho K, Boorer C, Khan U, Deva A, Chang L
J Plast Reconstr Aesthet Surg 2006;59(5):494-8. doi: 10.1016/j.bjps.2005.09.029. PMID: 16749194
Akita K, Ibukuro K, Yamaguchi K, Heima S, Sato T
Surg Radiol Anat 2000;22(2):111-5. doi: 10.1007/s00276-000-0111-6. PMID: 10959678
DiPietro MA
Radiology 1993 Jul;188(1):149-53. doi: 10.1148/radiology.188.1.8511289. PMID: 8511289
Owens GR, Fino GJ, Herbert DL, Steen VD, Medsger TA Jr, Pennock BE, Cottrell JJ, Rodnan GP, Rogers RM
Chest 1983 Nov;84(5):546-50. doi: 10.1378/chest.84.5.546. PMID: 6628005
Klisić P, Filipović M, Uzelac O, Milinković Z
J Pediatr Orthop 1981;1(1):43-5. doi: 10.1097/01241398-198101010-00006. PMID: 7341651

Diagnosis

Pinho CPS, Diniz ADS, Arruda IKG, Leite APDL, Petribu MMV, Rodrigues IG
Arch Endocrinol Metab 2018 Aug;62(4):416-423. doi: 10.20945/2359-3997000000055. PMID: 30304105Free PMC Article
Smayra T, Nabhane L, Tabet G, Menassa-Moussa L, Hachem K, Haddad-Zebouni S
Surg Radiol Anat 2014 Sep;36(7):725-8. Epub 2013 Oct 29 doi: 10.1007/s00276-013-1227-9. PMID: 24166072
Kaczynski J, Dillon M, Hilton J
BMJ Case Rep 2012 May 30;2012 doi: 10.1136/bcr.02.2012.5796. PMID: 22669858Free PMC Article
Akita K, Ibukuro K, Yamaguchi K, Heima S, Sato T
Surg Radiol Anat 2000;22(2):111-5. doi: 10.1007/s00276-000-0111-6. PMID: 10959678
Knox L, Tuggle D, Knott-Craig CJ
J Pediatr Surg 1994 Dec;29(12):1513-6. doi: 10.1016/0022-3468(94)90198-8. PMID: 7877011

Therapy

Yaseen Z, Baram A
Asian Cardiovasc Thorac Ann 2014 Feb;22(2):193-6. Epub 2013 Oct 11 doi: 10.1177/0218492313489840. PMID: 24585792

Prognosis

Dedouit F, Telmon N, Guilbeau-Frugier C, Gainza D, Otal P, Joffre F, Rougé D
J Forensic Sci 2007 Jul;52(4):960-4. Epub 2007 Jun 6 doi: 10.1111/j.1556-4029.2007.00475.x. PMID: 17553090
Akita K, Ibukuro K, Yamaguchi K, Heima S, Sato T
Surg Radiol Anat 2000;22(2):111-5. doi: 10.1007/s00276-000-0111-6. PMID: 10959678
Kim OH, Kim WS, Kim MJ, Jung JY, Suh JH
Radiographics 2000 May-Jun;20(3):653-71. doi: 10.1148/radiographics.20.3.g00ma05653. PMID: 10835119
Woodring JH, Fried AM, Hatfield DR, Stevens RK, Todd EP
AJR Am J Roentgenol 1982 Feb;138(2):211-5. doi: 10.2214/ajr.138.2.211. PMID: 6976721
Klisić P, Filipović M, Uzelac O, Milinković Z
J Pediatr Orthop 1981;1(1):43-5. doi: 10.1097/01241398-198101010-00006. PMID: 7341651

Clinical prediction guides

Pinho CPS, Diniz ADS, Arruda IKG, Leite APDL, Petribu MMV, Rodrigues IG
Arch Endocrinol Metab 2018 Aug;62(4):416-423. doi: 10.20945/2359-3997000000055. PMID: 30304105Free PMC Article
Demirtas Y, Yavuzer R, Findikcioglu K, Atabay K, Jackson IT
J Craniofac Surg 2006 Jan;17(1):131-8. doi: 10.1097/01.scs.0000197388.89185.f0. PMID: 16432420
Williams MS
Am J Med Genet A 2003 Aug 1;120A(4):583-7. doi: 10.1002/ajmg.a.20091. PMID: 12884444
Kim OH, Kim WS, Kim MJ, Jung JY, Suh JH
Radiographics 2000 May-Jun;20(3):653-71. doi: 10.1148/radiographics.20.3.g00ma05653. PMID: 10835119
Woodring JH, Fried AM, Hatfield DR, Stevens RK, Todd EP
AJR Am J Roentgenol 1982 Feb;138(2):211-5. doi: 10.2214/ajr.138.2.211. PMID: 6976721

Recent systematic reviews

Hinchcliff KM, Xue Y, Wong GB
Ann Plast Surg 2021 May 1;86(5S Suppl 3):S418-S421. doi: 10.1097/SAP.0000000000002724. PMID: 33470621
Battle C, Hayward S, Eggert S, Evans PA
Emerg Med J 2019 Mar;36(3):185-190. Epub 2018 Nov 23 doi: 10.1136/emermed-2017-207416. PMID: 30470688

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