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Hand oligodactyly

MedGen UID:
152602
Concept ID:
C0728895
Congenital Abnormality; Finding
Synonyms: Absent finger; Finger missing
SNOMED CT: Finger missing (71358006); Absent finger (71358006)

Professional guidelines

PubMed

Morales Roselló J, García Almela A, Pérez Corella DA, Montesinos Sepúlveda L
J Ultrasound Med 2012 Nov;31(11):1856-7. doi: 10.7863/jum.2012.31.11.1856. PMID: 23091259

Recent clinical studies

Etiology

Mantilla-Rivas E, Brennan A, Goldrich A, Bryant JR, Oh AK, Rogers GF
Hand (N Y) 2020 Jan;15(1):NP14-NP21. Epub 2019 Sep 22 doi: 10.1177/1558944719837657. PMID: 31542953Free PMC Article
Jurcă MC, Bembea M, Şandor MI, Zaha DC, Negrean RA, Vesa CM, Jurcă AA, Moisa FC, Vicaş LG, Paul C, Cheregi SD, Szilagyi A, Buhaş CL, Jurcă AD
Rom J Morphol Embryol 2019;60(4):1221-1226. PMID: 32239098
Marques F, Tenney J, Duran I, Martin J, Nevarez L, Pogue R, Krakow D, Cohn DH, Li B
PLoS Genet 2016 Sep;12(9):e1006307. Epub 2016 Sep 13 doi: 10.1371/journal.pgen.1006307. PMID: 27622494Free PMC Article
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Wessels MW, Den Hollander NS, Cohen-Overbeek TE, Lesnik Oberstein MS, Nash RM, Wladimiroff JW, Niermeijer MF, Willems PJ
Am J Med Genet 2002 Nov 15;113(1):97-100. doi: 10.1002/ajmg.10729. PMID: 12400073

Diagnosis

Nocoń-Bohusz J, Basiak A, Bosak-Prus M, Noczyńska A
Pediatr Endocrinol Diabetes Metab 2019;25(4):208-211. doi: 10.5114/pedm.2019.89253. PMID: 32270976
Otera Y, Morokuma S, Yumoto Y, Hojo S, Gotoh T, Hara T, Ushijima Y, Nakashima Y, Tsukimori K, Wake N
Fetal Diagn Ther 2009;25(3):349-53. Epub 2009 Sep 22 doi: 10.1159/000235884. PMID: 19776601
Samson G, Gardner JC
Am J Med Genet 1996 Jan 11;61(2):174-7. doi: 10.1002/(SICI)1096-8628(19960111)61:2<174::AID-AJMG15>3.0.CO;2-R. PMID: 8669448
Sayli BS, Akarsu AN, Altan S
Am J Med Genet 1995 Jul 31;58(1):18-20. doi: 10.1002/ajmg.1320580105. PMID: 7573150
Gonzalez CH, Herrmann J, Opitz JM
Eur J Pediatr 1976 Nov 3;123(4):225-35. doi: 10.1007/BF00444644. PMID: 991870

Therapy

Mantilla-Rivas E, Brennan A, Goldrich A, Bryant JR, Oh AK, Rogers GF
Hand (N Y) 2020 Jan;15(1):NP14-NP21. Epub 2019 Sep 22 doi: 10.1177/1558944719837657. PMID: 31542953Free PMC Article
Baquero-Montoya C, Gil-Rodríguez MC, Hernández-Marcos M, Teresa-Rodrigo ME, Vicente-Gabas A, Bernal ML, Casale CH, Bueno-Lozano G, Bueno-Martínez I, Queralt E, Villa O, Hernando-Davalillo C, Armengol L, Gómez-Puertas P, Puisac B, Selicorni A, Ramos FJ, Pié J
Eur J Med Genet 2014 Sep;57(9):503-9. Epub 2014 May 27 doi: 10.1016/j.ejmg.2014.05.006. PMID: 24874887
Marles SL, Reed M, Evans JA
Am J Med Genet A 2003 Jan 1;116A(1):85-9. doi: 10.1002/ajmg.a.10731. PMID: 12476458
Gurrieri F, Cammarata M, Avarello RM, Genuardi M, Pomponi MG, Neri G, Giuffrè L
Am J Med Genet 1995 Jan 30;55(3):315-8. doi: 10.1002/ajmg.1320550314. PMID: 7726229

Prognosis

Nocoń-Bohusz J, Basiak A, Bosak-Prus M, Noczyńska A
Pediatr Endocrinol Diabetes Metab 2019;25(4):208-211. doi: 10.5114/pedm.2019.89253. PMID: 32270976
Muscatello A, Mastrocola N, Di Nicola M, Patacchiola F, Carta G
Fetal Diagn Ther 2012;31(2):138-40. Epub 2012 Jan 11 doi: 10.1159/000335405. PMID: 22236723
Kim CA, Konig A, Bertola DR, Albano LM, Gattás GJ, Bornholdt D, Leveleki L, Happle R, Grzeschik KH
Dermatology 2005;211(2):155-8. doi: 10.1159/000086448. PMID: 16088165

Clinical prediction guides

Jurcă MC, Bembea M, Şandor MI, Zaha DC, Negrean RA, Vesa CM, Jurcă AA, Moisa FC, Vicaş LG, Paul C, Cheregi SD, Szilagyi A, Buhaş CL, Jurcă AD
Rom J Morphol Embryol 2019;60(4):1221-1226. PMID: 32239098
Marques F, Tenney J, Duran I, Martin J, Nevarez L, Pogue R, Krakow D, Cohn DH, Li B
PLoS Genet 2016 Sep;12(9):e1006307. Epub 2016 Sep 13 doi: 10.1371/journal.pgen.1006307. PMID: 27622494Free PMC Article
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Gurrieri F, Cammarata M, Avarello RM, Genuardi M, Pomponi MG, Neri G, Giuffrè L
Am J Med Genet 1995 Jan 30;55(3):315-8. doi: 10.1002/ajmg.1320550314. PMID: 7726229
Robinow M, Johnson GF, Apesos J
Am J Med Genet 1986 Oct;25(2):293-7. doi: 10.1002/ajmg.1320250214. PMID: 3777025

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