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Absent metatarsal bone

MedGen UID:
866877
Concept ID:
C4021232
Finding
Synonyms: Absent long bone of foot; Aplasia of the metatarsal bones
 
HPO: HP:0010744

Definition

A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone. [from HPO]

Conditions with this feature

Acheiropodia
MedGen UID:
120547
Concept ID:
C0265559
Congenital Abnormality
Acheiropody is characterized by bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. Specific patterns of malformations consist of a complete amputation of the distal epiphysis of the humerus, amputation of the distal part of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of the carpal, metacarpal, tarsal, metatarsal, and phalangeal bones (summary by Ianakiev et al., 2001).

Recent clinical studies

Etiology

Hootnick DR
J Am Podiatr Med Assoc 2020 May 1;110(3) doi: 10.7547/18-031. PMID: 32730600
Wilson LAB, De Groote I, Humphrey LT
Am J Phys Anthropol 2020 Apr;171(4):628-644. Epub 2020 Jan 11 doi: 10.1002/ajpa.24002. PMID: 31925961
Dayton P, Feilmeier M
J Foot Ankle Surg 2017 Sep-Oct;56(5):1041-1046. doi: 10.1053/j.jfas.2017.05.006. PMID: 28842090
Torriani M, Thomas BJ, Bredella MA, Ouellette H
AJR Am J Roentgenol 2008 Mar;190(3):570-5. doi: 10.2214/AJR.07.2847. PMID: 18287423
Coughlin MJ
J Bone Joint Surg Am 2000 Mar;82(3):322-41. PMID: 10724225

Diagnosis

Reyes BA, Birch JG, Hootnick DR, Cherkashin AM, Samchukov ML
J Pediatr Orthop 2017 Jul/Aug;37(5):332-337. doi: 10.1097/BPO.0000000000000646. PMID: 26356313
Torriani M, Thomas BJ, Bredella MA, Ouellette H
AJR Am J Roentgenol 2008 Mar;190(3):570-5. doi: 10.2214/AJR.07.2847. PMID: 18287423
Szendroi M, Köllo K, Antal I, Lakatos J, Szoke G
J Rheumatol 2004 May;31(5):957-64. PMID: 15124257
Costa T, Ramsby G, Cassia F, Peters KR, Soares J, Correa J, Quelce-Salgado A, Tsipouras P
Am J Med Genet 1998 Feb 17;75(5):523-9. doi: 10.1002/(sici)1096-8628(19980217)75:5<523::aid-ajmg13>3.0.co;2-m. PMID: 9489798
Marshall P, Hamilton WG
Am J Sports Med 1992 Mar-Apr;20(2):169-75. doi: 10.1177/036354659202000213. PMID: 1558245

Therapy

Pearsall C, Arciero E, Gupta P, Bäcker H, Tantigate D, Trofa DP, Vosseller JT
Foot Ankle Spec 2024 Dec;17(6):632-638. Epub 2023 Jun 6 doi: 10.1177/19386400231175376. PMID: 37278226
Kanatli U, Ozturk AM, Ercan NG, Ozalay M, Daglar B, Yetkin H
Clin Anat 2006 Oct;19(7):634-9. doi: 10.1002/ca.20282. PMID: 16506237
Weinraub GM, Meberg R, Steinberg JS
J Foot Ankle Surg 2004 Jul-Aug;43(4):221-4. doi: 10.1053/j.jfas.2004.05.008. PMID: 15284810

Prognosis

Wilson LAB, De Groote I, Humphrey LT
Am J Phys Anthropol 2020 Apr;171(4):628-644. Epub 2020 Jan 11 doi: 10.1002/ajpa.24002. PMID: 31925961
Dayton P, Feilmeier M
J Foot Ankle Surg 2017 Sep-Oct;56(5):1041-1046. doi: 10.1053/j.jfas.2017.05.006. PMID: 28842090
Reyes BA, Birch JG, Hootnick DR, Cherkashin AM, Samchukov ML
J Pediatr Orthop 2017 Jul/Aug;37(5):332-337. doi: 10.1097/BPO.0000000000000646. PMID: 26356313
Al-Yahyaee SA, Al-Kindi MN, Habbal O, Kumar DS
Am J Med Genet A 2003 Aug 15;121A(1):9-14. doi: 10.1002/ajmg.a.20256. PMID: 12900894
Coughlin MJ
J Bone Joint Surg Am 2000 Mar;82(3):322-41. PMID: 10724225

Clinical prediction guides

Kaur K, Meyr AJ
J Foot Ankle Surg 2023 Sep-Oct;62(5):764-767. Epub 2023 Feb 1 doi: 10.1053/j.jfas.2023.01.009. PMID: 36872102
Hootnick DR
J Am Podiatr Med Assoc 2020 May 1;110(3) doi: 10.7547/18-031. PMID: 32730600
Yammine K
Anat Rec (Hoboken) 2018 Jun;301(6):1046-1060. Epub 2018 Jan 31 doi: 10.1002/ar.23774. PMID: 29314775
Dayton P, Feilmeier M
J Foot Ankle Surg 2017 Sep-Oct;56(5):1041-1046. doi: 10.1053/j.jfas.2017.05.006. PMID: 28842090
Al-Yahyaee SA, Al-Kindi MN, Habbal O, Kumar DS
Am J Med Genet A 2003 Aug 15;121A(1):9-14. doi: 10.1002/ajmg.a.20256. PMID: 12900894

Recent systematic reviews

Pearsall C, Arciero E, Gupta P, Bäcker H, Tantigate D, Trofa DP, Vosseller JT
Foot Ankle Spec 2024 Dec;17(6):632-638. Epub 2023 Jun 6 doi: 10.1177/19386400231175376. PMID: 37278226

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