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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

Tokumoto H, Akita S, Kosaka K, Kubota Y, Mitsukawa N
J Plast Reconstr Aesthet Surg 2022 Dec;75(12):4354-4360. Epub 2022 Aug 24 doi: 10.1016/j.bjps.2022.08.041. PMID: 36253301
Balaban İ, Bilgici MC, Baysal K
BMC Pediatr 2022 Feb 21;22(1):102. doi: 10.1186/s12887-022-03137-0. PMID: 35189859Free PMC Article
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
Schiess R, Boeni T, Rühli F, Haeusler M
J Hum Evol 2014 Feb;67:48-59. Epub 2014 Jan 31 doi: 10.1016/j.jhevol.2013.12.009. PMID: 24491377
Nalla S, Asvat R
J Anat 1995 Jun;186 ( Pt 3)(Pt 3):645-9. PMID: 7559137Free PMC Article

Diagnosis

Tsakotos G, Karampelias V, Chatziandreou I, Philippou D, Totlis T, Piagkou M
Acta Med Acad 2022 Dec;51(3):212-216. Epub 2022 Sep 15 doi: 10.5644/ama2006-124.391. PMID: 36799314Free PMC Article
Balaban İ, Bilgici MC, Baysal K
BMC Pediatr 2022 Feb 21;22(1):102. doi: 10.1186/s12887-022-03137-0. PMID: 35189859Free PMC Article
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
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
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

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

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
Park JH, Mangoba DC, Mun SJ, Kim DW, Jin HR
JAMA Facial Plast Surg 2013 Nov-Dec;15(6):439-47. doi: 10.1001/jamafacial.2013.95. PMID: 24030660
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
Nalla S, Asvat R
J Anat 1995 Jun;186 ( Pt 3)(Pt 3):645-9. PMID: 7559137Free PMC Article
Lascelles RG, Mohr PD, Neary D, Bloor K
Brain 1977 Sep;100(3):601-12. doi: 10.1093/brain/100.3.601. PMID: 589434

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
Dietrich TJ, Agten CA, Fürnstahl P, Vlachopoulos L, Pfirrmann CWA
AJR Am J Roentgenol 2017 Jul;209(1):159-166. Epub 2017 May 15 doi: 10.2214/AJR.16.17232. PMID: 28504571
Sears BW, Luchette FA, Esposito TJ, Dickson EL, Grant M, Santaniello JM, Jodlowski CR, Davis KA, Poulakidas SJ, Gamelli RL
J Trauma 2005 Aug;59(2):324-30; discussion 330-2. doi: 10.1097/01.ta.0000179450.01434.90. PMID: 16294071
Williams MS
Am J Med Genet A 2003 Aug 1;120A(4):583-7. doi: 10.1002/ajmg.a.20091. PMID: 12884444
Nalla S, Asvat R
J Anat 1995 Jun;186 ( Pt 3)(Pt 3):645-9. PMID: 7559137Free PMC Article

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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