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Partial absence of thumb

MedGen UID:
892293
•Concept ID:
C4024255
•
Anatomical Abnormality
Synonym: Aplasia of the phalanges of the thumb
 
HPO: HP:0009659

Definition

The absence of a phalangeal segment of a thumb. [from HPO]

Professional guidelines

PubMed

Gamekeeper's thumb--a treatment-oriented magnetic resonance imaging classification.
Milner CS, Manon-Matos Y, Thirkannad SM
J Hand Surg Am 2015 Jan;40(1):90-5. Epub 2014 Oct 7 doi: 10.1016/j.jhsa.2014.08.033. PMID: 25300993

Recent clinical studies

Etiology

Clinical effects of homodigital dorsal branch of the proper digital artery flap on repairing soft tissue defects of fingers.
Zhang Y, Zhou J, Qin J
J Plast Surg Hand Surg 2023 Jun 14;58:18-23. doi: 10.2340/jphs.v58.11967. PMID: 37313776
Versatility of the Posterior Interosseous Artery Flap: Emphasis on Powering Up the Toe Transfer.
Lee G, Kim B, Jeon N, Yoon J, Hong KY, Lim S, Eo S
Hand (N Y) 2023 Mar;18(2):272-281. Epub 2021 Jul 12 doi: 10.1177/15589447211028925. PMID: 34253087Free PMC Article
The relationship between motor control and phonology in dyslexic children.
Ramus F, Pidgeon E, Frith U
J Child Psychol Psychiatry 2003 Jul;44(5):712-22. doi: 10.1111/1469-7610.00157. PMID: 12831115
The spectrum of radial longitudinal deficiency: a modified classification.
James MA, McCarroll HR Jr, Manske PR
J Hand Surg Am 1999 Nov;24(6):1145-55. doi: 10.1053/jhsu.1999.1145. PMID: 10584934
A centralization procedure for radial clubhand.
Watson HK, Beebe RD, Cruz NI
J Hand Surg Am 1984 Jul;9(4):541-7. doi: 10.1016/s0363-5023(84)80107-0. PMID: 6747239

Diagnosis

Versatility of the Posterior Interosseous Artery Flap: Emphasis on Powering Up the Toe Transfer.
Lee G, Kim B, Jeon N, Yoon J, Hong KY, Lim S, Eo S
Hand (N Y) 2023 Mar;18(2):272-281. Epub 2021 Jul 12 doi: 10.1177/15589447211028925. PMID: 34253087Free PMC Article
Congenital limb deficiency in Japan: a cross-sectional nationwide survey on its epidemiology.
Mano H, Fujiwara S, Takamura K, Kitoh H, Takayama S, Ogata T, Hashimoto S, Haga N
BMC Musculoskelet Disord 2018 Jul 27;19(1):262. doi: 10.1186/s12891-018-2195-3. PMID: 30053842Free PMC Article
Gamekeeper's thumb--a treatment-oriented magnetic resonance imaging classification.
Milner CS, Manon-Matos Y, Thirkannad SM
J Hand Surg Am 2015 Jan;40(1):90-5. Epub 2014 Oct 7 doi: 10.1016/j.jhsa.2014.08.033. PMID: 25300993
Prenatal identification of isolated bilateral radial dysplasia.
Mancuso A, Giacobbe A, De Vivo A, Fanara G, Cocivera G
J Clin Ultrasound 2009 Mar-Apr;37(3):175-8. doi: 10.1002/jcu.20517. PMID: 18642365
The relationship between motor control and phonology in dyslexic children.
Ramus F, Pidgeon E, Frith U
J Child Psychol Psychiatry 2003 Jul;44(5):712-22. doi: 10.1111/1469-7610.00157. PMID: 12831115

Therapy

Congenital limb deficiency in Japan: a cross-sectional nationwide survey on its epidemiology.
Mano H, Fujiwara S, Takamura K, Kitoh H, Takayama S, Ogata T, Hashimoto S, Haga N
BMC Musculoskelet Disord 2018 Jul 27;19(1):262. doi: 10.1186/s12891-018-2195-3. PMID: 30053842Free PMC Article

Prognosis

Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.
Baz-Redón N, Soler-Colomer L, Fernández-Cancio M, Benito-Sanz S, Garrido M, Moliné T, Clemente M, Camats-Tarruella N, Yeste D
Front Endocrinol (Lausanne) 2022;13:957969. Epub 2022 Oct 11 doi: 10.3389/fendo.2022.957969. PMID: 36303863Free PMC Article
The spectrum of radial longitudinal deficiency: a modified classification.
James MA, McCarroll HR Jr, Manske PR
J Hand Surg Am 1999 Nov;24(6):1145-55. doi: 10.1053/jhsu.1999.1145. PMID: 10584934
Proximal toe phalanx transplantation for bony stabilization and lengthening of partially aplastic digits.
Buck-Gramcko D, Pereira JA
Ann Chir Main Memb Super 1990;9(2):107-18. doi: 10.1016/s0753-9053(05)80487-9. PMID: 1695513
A centralization procedure for radial clubhand.
Watson HK, Beebe RD, Cruz NI
J Hand Surg Am 1984 Jul;9(4):541-7. doi: 10.1016/s0363-5023(84)80107-0. PMID: 6747239
Congenital absence of the pectoral muscles. A review of twenty-five patients.
Beals RK, Crawford S
Clin Orthop Relat Res 1976 Sep;(119):166-71. PMID: 954307

Clinical prediction guides

Clinical effects of homodigital dorsal branch of the proper digital artery flap on repairing soft tissue defects of fingers.
Zhang Y, Zhou J, Qin J
J Plast Surg Hand Surg 2023 Jun 14;58:18-23. doi: 10.2340/jphs.v58.11967. PMID: 37313776
Versatility of the Posterior Interosseous Artery Flap: Emphasis on Powering Up the Toe Transfer.
Lee G, Kim B, Jeon N, Yoon J, Hong KY, Lim S, Eo S
Hand (N Y) 2023 Mar;18(2):272-281. Epub 2021 Jul 12 doi: 10.1177/15589447211028925. PMID: 34253087Free PMC Article
Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.
Baz-Redón N, Soler-Colomer L, Fernández-Cancio M, Benito-Sanz S, Garrido M, Moliné T, Clemente M, Camats-Tarruella N, Yeste D
Front Endocrinol (Lausanne) 2022;13:957969. Epub 2022 Oct 11 doi: 10.3389/fendo.2022.957969. PMID: 36303863Free PMC Article
A case of symbrachydactyly with oligodactyly.
Seven M, Yuksel A, Ozkilic A
Genet Couns 2001;12(1):77-83. PMID: 11332981

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