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Complete duplication of phalanx of hand

MedGen UID:
869693
Concept ID:
C4024121
Anatomical Abnormality
Synonym: Complete duplication of hand bones
 
HPO: HP:0009998

Definition

A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. [from HPO]

Recent clinical studies

Etiology

Iba K, Wada T, Kanaya K, Oki G, Yamashita T
J Hand Surg Eur Vol 2013 Mar;38(3):267-71. Epub 2012 Jun 25 doi: 10.1177/1753193412450530. PMID: 22733700
Graham JM Jr, Brown FE, Hall BD
Clin Pediatr (Phila) 1987 Mar;26(3):142-8. doi: 10.1177/000992288702600308. PMID: 3816011

Diagnosis

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
Wang C, Huang X, Tan W
Aesthetic Plast Surg 2012 Aug;36(4):928-33. Epub 2012 Apr 5 doi: 10.1007/s00266-011-9861-2. PMID: 22476516
Kantaputra PN, Chalidapong P
Am J Med Genet 2000 Jul 17;93(2):126-31. doi: 10.1002/1096-8628(20000717)93:2<126::aid-ajmg9>3.0.co;2-s. PMID: 10869115

Clinical prediction guides

Liu Q, Zhong L, Li H, Liu J, Zhu Z, Qu W, Li R
J Plast Reconstr Aesthet Surg 2018 Dec;71(12):1717-1722. Epub 2018 Aug 24 doi: 10.1016/j.bjps.2018.08.003. PMID: 30366872
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
Iba K, Wada T, Kanaya K, Oki G, Yamashita T
J Hand Surg Eur Vol 2013 Mar;38(3):267-71. Epub 2012 Jun 25 doi: 10.1177/1753193412450530. PMID: 22733700

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