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Aplasia of the distal phalanx of the thumb

MedGen UID:
867058
Concept ID:
C4021416
Finding
Synonyms: Absence of the outermost bone of the thumb; Absent ossification/absent terminal thumb phalanx; Aplasia of the outermost bone of the thumb
 
HPO: HP:0009649

Definition

Absence of the distal/terminal phalanx of the thumb. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAplasia of the distal phalanx of the thumb

Professional guidelines

PubMed

Ogino T, Ishii S, Kato H
J Hand Surg Am 1994 Jan;19(1):39-47. doi: 10.1016/0363-5023(94)90222-4. PMID: 8169367

Recent clinical studies

Etiology

Kim BJ, Choi JH, Kwon ST
Plast Reconstr Surg 2017 Dec;140(6):1220-1228. doi: 10.1097/PRS.0000000000003877. PMID: 28820841
He B, Liu G, Nan G
J Hand Surg Eur Vol 2017 Jun;42(5):516-522. Epub 2017 Feb 14 doi: 10.1177/1753193417691747. PMID: 28196434
Zuidam JM, Selles RW, de Kraker M, Hovius SE
J Hand Surg Eur Vol 2016 Mar;41(3):253-7. Epub 2015 Mar 20 doi: 10.1177/1753193415576459. PMID: 25794887
Braga-Silva J, Padoin AV
J Hand Surg Am 2012 Dec;37(12):2541-6. doi: 10.1016/j.jhsa.2012.09.008. PMID: 23174067
Samson P, Salazard B, Magalon G
Handchir Mikrochir Plast Chir 2004 Apr-Jun;36(2-3):141-5. doi: 10.1055/s-2004-817888. PMID: 15162312

Diagnosis

Swed S, Nashwan AJ, Saleh HH, Chawa Y, Baria A, Etr A
Medicine (Baltimore) 2022 Oct 21;101(42):e31237. doi: 10.1097/MD.0000000000031237. PMID: 36281136Free PMC Article
Holmes LB, Nasri HZ
Am J Med Genet A 2022 Nov;188(11):3236-3241. Epub 2022 Sep 8 doi: 10.1002/ajmg.a.62941. PMID: 36073773
Holmes LB, Nasri HZ
Am J Med Genet A 2022 Jun;188(6):1746-1751. Epub 2022 Mar 2 doi: 10.1002/ajmg.a.62697. PMID: 35234329
Létard P, Guimiot F, Dupont C, Rosenblatt J, Delezoide AL, Khung-Savatovsky S
Am J Med Genet A 2018 Nov;176(11):2325-2330. Epub 2018 Oct 17 doi: 10.1002/ajmg.a.40505. PMID: 30328679
He B, Liu G, Nan G
J Hand Surg Eur Vol 2017 Jun;42(5):516-522. Epub 2017 Feb 14 doi: 10.1177/1753193417691747. PMID: 28196434

Therapy

Lee CK, Chang CC, Johar A, Puwira O, Roshidah B
JAMA Dermatol 2013 Mar;149(3):295-9. doi: 10.1001/jamadermatol.2013.1425. PMID: 23682364
Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP
J Med Genet 2007 Feb;44(2):89-98. Epub 2006 Jun 26 doi: 10.1136/jmg.2006.043687. PMID: 16801345Free PMC Article

Prognosis

Saito S, Makino A, Yamanaka H, Tsuge I, Morimoto N
J Hand Surg Eur Vol 2023 Jan;48(1):10-19. Epub 2022 Oct 6 doi: 10.1177/17531934221126864. PMID: 36204982
He B, Liu G, Nan G
J Hand Surg Eur Vol 2017 Jun;42(5):516-522. Epub 2017 Feb 14 doi: 10.1177/1753193417691747. PMID: 28196434
Abid A, Accadbled F, Knorr G, Darodes P, Cahuzac JP, Sales de Gauzy J
Orthop Traumatol Surg Res 2010 Sep;96(5):521-4. Epub 2010 Jul 1 doi: 10.1016/j.otsr.2010.01.013. PMID: 20594929
Samson P, Salazard B, Magalon G
Handchir Mikrochir Plast Chir 2004 Apr-Jun;36(2-3):141-5. doi: 10.1055/s-2004-817888. PMID: 15162312
Bas H, Kleinert JM
J Hand Surg Am 1999 Nov;24(6):1171-84. doi: 10.1053/jhsu.1999.1171. PMID: 10584938

Clinical prediction guides

Saito S, Makino A, Yamanaka H, Tsuge I, Morimoto N
J Hand Surg Eur Vol 2023 Jan;48(1):10-19. Epub 2022 Oct 6 doi: 10.1177/17531934221126864. PMID: 36204982
Du Z, Qiu X, Han D, Jiang H
J Pediatr Orthop 2022 Jul 1;42(6):e636-e640. Epub 2022 Mar 14 doi: 10.1097/BPO.0000000000002139. PMID: 35275893
Kim BJ, Choi JH, Kwon ST
Plast Reconstr Surg 2017 Dec;140(6):1220-1228. doi: 10.1097/PRS.0000000000003877. PMID: 28820841
Wall LB, Goldfarb CA
J Hand Surg Am 2015 Sep;40(9):1873-6. Epub 2015 Aug 4 doi: 10.1016/j.jhsa.2015.06.097. PMID: 26248698
Ogino T, Ishii S, Kato H
J Hand Surg Am 1994 Jan;19(1):39-47. doi: 10.1016/0363-5023(94)90222-4. PMID: 8169367

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