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Absent ray

MedGen UID:
868276
Concept ID:
C4022668
Anatomical Abnormality
HPO: HP:0030030

Definition

The absence of all phalanges of a digit and the associated metacarpal /metatarsal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent ray

Professional guidelines

PubMed

Smith CJ, Kishore AK, Vail A, Chamorro A, Garau J, Hopkins SJ, Di Napoli M, Kalra L, Langhorne P, Montaner J, Roffe C, Rudd AG, Tyrrell PJ, van de Beek D, Woodhead M, Meisel A
Stroke 2015 Aug;46(8):2335-40. Epub 2015 Jun 25 doi: 10.1161/STROKEAHA.115.009617. PMID: 26111886
Houben CH, Curry JI
Prenat Diagn 2008 Jul;28(7):667-75. doi: 10.1002/pd.1938. PMID: 18302317
Wright T, McGechan A
Mol Diagn 2003;7(1):49-55. doi: 10.1007/BF03260021. PMID: 14529321

Recent clinical studies

Etiology

Raylman RR, Stolin A, Hays S, Johnson E, Lankas S, Mekonnen M, Roemer K
Med Phys 2022 Dec;49(12):7489-7496. Epub 2022 Oct 24 doi: 10.1002/mp.16033. PMID: 36219487Free PMC Article
Ebeling PR, Nguyen HH, Aleksova J, Vincent AJ, Wong P, Milat F
Endocr Rev 2022 Mar 9;43(2):240-313. doi: 10.1210/endrev/bnab028. PMID: 34476488
Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Touré A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F
Am J Hum Genet 2021 Feb 4;108(2):309-323. Epub 2021 Jan 19 doi: 10.1016/j.ajhg.2021.01.002. PMID: 33472045Free PMC Article
Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article
Spitz L
Orphanet J Rare Dis 2007 May 11;2:24. doi: 10.1186/1750-1172-2-24. PMID: 17498283Free PMC Article

Diagnosis

Raylman RR, Stolin A, Hays S, Johnson E, Lankas S, Mekonnen M, Roemer K
Med Phys 2022 Dec;49(12):7489-7496. Epub 2022 Oct 24 doi: 10.1002/mp.16033. PMID: 36219487Free PMC Article
Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. PMID: 20113479Free PMC Article
Spitz L
Orphanet J Rare Dis 2007 May 11;2:24. doi: 10.1186/1750-1172-2-24. PMID: 17498283Free PMC Article
Prisant LM, Nalamolu VR
J Clin Hypertens (Greenwich) 2005 Jun;7(6):367-71. doi: 10.1111/j.1524-6175.2005.04116.x. PMID: 16088302Free PMC Article
Gordon N
Brain Dev 1996 Jul-Aug;18(4):257-62. doi: 10.1016/0387-7604(96)00037-x. PMID: 8879643

Therapy

Agarwal S, McMahon DJ, Chen J, Brossfield AV, Fernando J, Bilezikian JP, Cusano NE, Rubin MR
J Bone Miner Res 2023 Apr;38(4):480-492. Epub 2023 Mar 1 doi: 10.1002/jbmr.4780. PMID: 36726204Free PMC Article
Ebeling PR, Nguyen HH, Aleksova J, Vincent AJ, Wong P, Milat F
Endocr Rev 2022 Mar 9;43(2):240-313. doi: 10.1210/endrev/bnab028. PMID: 34476488
Wakeford R, Bithell JF
Int J Radiat Biol 2021;97(5):571-592. Epub 2021 Apr 12 doi: 10.1080/09553002.2021.1906463. PMID: 33787450
Caroselli C, Raffaldi I, Norbedo S, Parri N, Poma F, Blaivas M, Zaccaria E, Dib G, Fiorentino R, Longo D, Biban P, Urbino AF
Ultrasound Med Biol 2021 Jan;47(1):68-75. Epub 2020 Oct 21 doi: 10.1016/j.ultrasmedbio.2020.09.012. PMID: 33097313
Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159

Prognosis

Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Touré A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F
Am J Hum Genet 2021 Feb 4;108(2):309-323. Epub 2021 Jan 19 doi: 10.1016/j.ajhg.2021.01.002. PMID: 33472045Free PMC Article
Mihailovic J, Goldsmith SJ
Semin Nucl Med 2015 Jan;45(1):16-31. doi: 10.1053/j.semnuclmed.2014.08.002. PMID: 25475376
Takei Y, Inoue K, Trajanovska S, Donald JA
Gen Comp Endocrinol 2011 May 1;171(3):258-66. Epub 2011 Mar 22 doi: 10.1016/j.ygcen.2011.02.021. PMID: 21362425
Spitz L
Orphanet J Rare Dis 2007 May 11;2:24. doi: 10.1186/1750-1172-2-24. PMID: 17498283Free PMC Article
Prisant LM, Nalamolu VR
J Clin Hypertens (Greenwich) 2005 Jun;7(6):367-71. doi: 10.1111/j.1524-6175.2005.04116.x. PMID: 16088302Free PMC Article

Clinical prediction guides

Raylman RR, Stolin A, Hays S, Johnson E, Lankas S, Mekonnen M, Roemer K
Med Phys 2022 Dec;49(12):7489-7496. Epub 2022 Oct 24 doi: 10.1002/mp.16033. PMID: 36219487Free PMC Article
Ebeling PR, Nguyen HH, Aleksova J, Vincent AJ, Wong P, Milat F
Endocr Rev 2022 Mar 9;43(2):240-313. doi: 10.1210/endrev/bnab028. PMID: 34476488
Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Touré A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F
Am J Hum Genet 2021 Feb 4;108(2):309-323. Epub 2021 Jan 19 doi: 10.1016/j.ajhg.2021.01.002. PMID: 33472045Free PMC Article
Prisant LM, Nalamolu VR
J Clin Hypertens (Greenwich) 2005 Jun;7(6):367-71. doi: 10.1111/j.1524-6175.2005.04116.x. PMID: 16088302Free PMC Article
Milligan A, Fletcher A, Porter DI, Hutchinson PE
Clin Exp Dermatol 1991 Jul;16(4):264-7. doi: 10.1111/j.1365-2230.1991.tb00371.x. PMID: 1794166

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