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Short pointed phalanges

MedGen UID:
342345
•Concept ID:
C1849740
•
Finding
Synonym: Short pointed digital bones
 
HPO: HP:0006045

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort pointed phalanges

Professional guidelines

PubMed

Physeal and periphyseal injuries of the hand. Patterns of injury and results of treatment.
Fischer MD, McElfresh EC
Hand Clin 1994 May;10(2):287-301. PMID: 8040207

Recent clinical studies

Etiology

How accurate is eyeball measurement of curvature? A tool for hypospadias surgery.
Mosa H, Paul A, Solomon E, Garriboli M
J Pediatr Urol 2022 Aug;18(4):470-476. Epub 2022 Apr 20 doi: 10.1016/j.jpurol.2022.04.009. PMID: 35534383
A new finger-preserving procedure as an alternative to amputation in recurrent severe Dupuytren contracture of the small finger.
Eiriksdottir A, Atroshi I
BMC Musculoskelet Disord 2019 Jul 9;20(1):323. doi: 10.1186/s12891-019-2701-2. PMID: 31288790Free PMC Article
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
Segarra NG, Ballhausen D, Crawford H, Perreau M, Campos-Xavier B, van Spaendonck-Zwarts K, Vermeer C, Russo M, Zambelli PY, Stevenson B, Royer-Bertrand B, Rivolta C, Candotti F, Unger S, Munier FL, Superti-Furga A, Bonafé L
Am J Med Genet A 2015 Dec;167A(12):2902-12. Epub 2015 Aug 19 doi: 10.1002/ajmg.a.37338. PMID: 26286438
Bony changes in common mucopolysaccharidoses.
Chen SJ, Li YW, Wang TR, Hsu JC
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1996 May-Jun;37(3):178-84. PMID: 8755171
Physeal and periphyseal injuries of the hand. Patterns of injury and results of treatment.
Fischer MD, McElfresh EC
Hand Clin 1994 May;10(2):287-301. PMID: 8040207

Diagnosis

SOFT syndrome with kohlschutter-Tonz syndrome.
Mondkar SA, Khadilkar V, Kasegaonkar P, Khadilkar A
J Postgrad Med 2024 Jan-Mar;70(1):56-59. doi: 10.4103/jpgm.jpgm_1001_22. PMID: 37706418Free PMC Article
How accurate is eyeball measurement of curvature? A tool for hypospadias surgery.
Mosa H, Paul A, Solomon E, Garriboli M
J Pediatr Urol 2022 Aug;18(4):470-476. Epub 2022 Apr 20 doi: 10.1016/j.jpurol.2022.04.009. PMID: 35534383
Aesthetic and plastic surgery for trichorhinophalangeal syndrome.
Morioka D, Hosaka Y
Aesthetic Plast Surg 2000 Jan-Feb;24(1):39-45. doi: 10.1007/s002669910008. PMID: 10742468
The 12p trisomy syndrome.
Armendares S, Salamanca F, Nava S, Ramirez S, Cantu JM
Ann Genet 1975 Jun;18(2):89-94. PMID: 1081370
Common plantar hyperkeratoses.
Engler GL, Gibbs RC
J Dermatol Surg 1975 Oct;1(3):59-61. doi: 10.1111/j.1524-4725.1975.tb00099.x. PMID: 131136

Therapy

Pyrolytic carbon resurfacing arthroplasty for osteoarthritis of the proximal interphalangeal joint of the finger.
Sweets TM, Stern PJ
J Bone Joint Surg Am 2011 Aug 3;93(15):1417-25. doi: 10.2106/JBJS.J.00832. PMID: 21915547

Prognosis

Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
Herlin LK, Herlin MK, Blechingberg J, Rønholt K, Graversen L, Schmidt SAJ, Jørgensen MW, Hellfritzsch MB, Hald JD, Beck-Nielsen SS, Gjørup H, Andersen BN, Gregersen PA, Sommerlund M
Eur J Med Genet 2024 Jun;69:104937. Epub 2024 Apr 2 doi: 10.1016/j.ejmg.2024.104937. PMID: 38574886
The dorsal middle phalangeal finger flap. Mid-term results of 43 cases.
Leupin P, Weil J, Büchler U
J Hand Surg Br 1997 Jun;22(3):362-71. doi: 10.1016/s0266-7681(97)80403-2. PMID: 9222918

Clinical prediction guides

How accurate is eyeball measurement of curvature? A tool for hypospadias surgery.
Mosa H, Paul A, Solomon E, Garriboli M
J Pediatr Urol 2022 Aug;18(4):470-476. Epub 2022 Apr 20 doi: 10.1016/j.jpurol.2022.04.009. PMID: 35534383
A modified proximally based nail bed flap approach for benign subungual bone tumors in the distal phalanx.
Hong SW, Kim J, Jang S, Lee MH, Gong HS, Baek GH
J Orthop Surg (Hong Kong) 2019 Sep-Dec;27(3):2309499019883786. doi: 10.1177/2309499019883786. PMID: 31684817
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
Segarra NG, Ballhausen D, Crawford H, Perreau M, Campos-Xavier B, van Spaendonck-Zwarts K, Vermeer C, Russo M, Zambelli PY, Stevenson B, Royer-Bertrand B, Rivolta C, Candotti F, Unger S, Munier FL, Superti-Furga A, Bonafé L
Am J Med Genet A 2015 Dec;167A(12):2902-12. Epub 2015 Aug 19 doi: 10.1002/ajmg.a.37338. PMID: 26286438
Pyrolytic carbon resurfacing arthroplasty for osteoarthritis of the proximal interphalangeal joint of the finger.
Sweets TM, Stern PJ
J Bone Joint Surg Am 2011 Aug 3;93(15):1417-25. doi: 10.2106/JBJS.J.00832. PMID: 21915547
Bilateral hands and feet postaxial polydactyly presenting with renal vascular anomalies.
Gesase AP
Ital J Anat Embryol 2006 Oct-Dec;111(4):179-86. PMID: 17385274

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