Skip to main content
SpringerLink
Log in

Radiographic assessment of congenital malformations of the upper extremity

  • Pictorial Essay
  • Published:
Pediatric Radiology Aims and scope Submit manuscript

Abstract

Congenital and developmental malformations of the upper extremity are uncommon and their diagnosis can challenge radiologists. Many complex classification systems exist, the latest of which accounts for the complex embryology and pathogenetic mechanisms that govern the formation of these anomalies. Using appropriate descriptors allows for more specific diagnosis and improved consultation with referring pediatricians and surgeons, helping to guide medical and surgical interventions and, if indicated, further investigation for associated abnormalities and underlying syndromes. We review the imaging characteristics of upper limb malformations to help pediatric radiologists better understand the classification and workup necessary in these cases.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6
Fig. 7
Fig. 8
Fig. 9
Fig. 10
Fig. 11
Fig. 12
Fig. 13
Fig. 14
Fig. 15
Fig. 16
Fig. 17
Fig. 18
Fig. 19
Fig. 20
Fig. 21
Fig. 22
Fig. 23
Fig. 24
Fig. 25
Fig. 26

Similar content being viewed by others

References

  1. McCarroll HR (2000) Congenital anomalies: a 25-year overview. J Hand Surg [Am] 25:1007–1037

    Article  CAS  Google Scholar 

  2. Ekblom AG, Laurell T, Arner M (2014) Epidemiology of congenital upper limb anomalies in Stockholm, Sweden, 1997 to 2007: application of the Oberg, Manske, and Tonkin classification. J Hand Surg [Am] 39:237–248

    Article  Google Scholar 

  3. Swanson AB (1976) A classification for congenital limb malformations. J Hand Surg [Am] 1:8–22

    Article  CAS  Google Scholar 

  4. Oberg KC, Feenstra JM, Manske PR et al (2010) Developmental biology and classification of congenital anomalies of the hand and upper extremity. J Hand Surg [Am] 35:2066–2076

    Article  Google Scholar 

  5. Tonkin MA, Tolerton SK, Quick TJ et al (2013) Classification of congenital anomalies of the hand and upper limb: development and assessment of a new system. J Hand Surg [Am] 38:1845–1853

    Article  Google Scholar 

  6. Goldfarb CA, Wall LB, Bohn DC et al (2015) Epidemiology of congenital upper limb anomalies in a midwest United States population: an assessment using the Oberg, Manske, and Tonkin classification. J Hand Surg [Am] 40:127–132

    Article  Google Scholar 

  7. Sammer DM, Chung KC (2009) Congenital hand differences: embryology and classification. Hand Clin 25:151–156

    Article  PubMed  Google Scholar 

  8. Bermejo-Sánchez E, Cuevas L, Amar E et al (2011) Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. Am J Med Genet C: Semin Med Genet 157C:305–320

    Article  Google Scholar 

  9. Rypens F, Dubois J, Garel L et al (2006) Obstetric US: watch the fetal hands. Radiographics 26:811–829

    Article  PubMed  Google Scholar 

  10. Van Den Berg DJ, Francke U (1993) Roberts syndrome: a review of 100 cases and a new rating system for severity. Am J Med Genet 47:1104–1123

    Article  Google Scholar 

  11. Kozin SH (2003) Upper-extremity congenital anomalies. J Bone Joint Surg Am 85A:1564–1576

    Google Scholar 

  12. Woodside JC, Light TR (2016) Symbrachydactyly — diagnosis, function, treatment. J Hand Surg [Am] 41:135–143

    Article  Google Scholar 

  13. Ram AN, Chung KC (2009) Poland’s syndrome: current thoughts in the setting of a controversy. Plast Reconstr Surg 123:949–955

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Dy CJ, Swarup I, Daluiski A (2014) Embryology, diagnosis, and evaluation of congenital hand anomalies. Curr Rev Musculoskelet Med 7:60–67

    Article  PubMed  PubMed Central  Google Scholar 

  15. O’Connor MB, Murphy M, Phelan MJ (2012) VACTERL association or VATER syndrome. Ir Med J 105:284–285

    PubMed  Google Scholar 

  16. Hersh JH, Angle B, Fox TL et al (2002) Developmental field defects: coming together of associations and sequences during blastogenesis. Am J Med Genet 110:320–323

    Article  PubMed  Google Scholar 

  17. Herman TE, Siegel MJ (2002) VACTERL-H syndrome. J Perinatol 22:496–498

    Article  PubMed  Google Scholar 

  18. Tischkowitz MD, Hodgson SV (2003) Fanconi anaemia. J Med Genet 40:1–10

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  19. De Kerviler E, Guermazi A, Zagdanski AM et al (2000) The clinical and radiological features of Fanconi’s anaemia. Clin Radiol 55:340–345

    Article  PubMed  Google Scholar 

  20. Sepulveda W, Enriquez G, Martinez JL et al (2004) Holt-Oram syndrome: contribution of prenatal 3-dimensional sonography in an index case. J Ultrasound Med 23:983–987

    PubMed  Google Scholar 

  21. Goldfarb CA, Wall LB (2014) Holt-Oram syndrome. J Hand Surg [Am] 39:1646–1648

    Article  Google Scholar 

  22. Patel C, Silcock L, McMullan D et al (2012) TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype. Eur J Hum Genet 20:863–869

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  23. Toriello HV (2011) Thrombocytopenia-absent radius syndrome. Semin Thromb Hemost 37:707–712

    Article  PubMed  Google Scholar 

  24. Yassaee VR, Hashemi-Gorji F, Soltani Z et al (2014) A new approach for molecular diagnosis of TAR syndrome. Clin Biochem 47:835–839

    Article  CAS  PubMed  Google Scholar 

  25. Wilson DB, Link DC, Mason PJ et al (2014) Inherited bone marrow failure syndromes in adolescents and young adults. Ann Med 46:353–363

    Article  PubMed  PubMed Central  Google Scholar 

  26. de Graaff E, Kozin SH (2009) Genetics of radial deficiencies. J Bone Joint Surg Am 91:81–86

    Article  PubMed  Google Scholar 

  27. Cole RJ, Manske PR (1997) Classification of ulnar deficiency according to the thumb and first web. J Hand Surg [Am] 22:479–488

    Article  CAS  Google Scholar 

  28. Takagi T, Seki A, Takayama S (2014) Elbow and forearm reconstruction in patients with ulnar dimelia can improve activities of daily living. J Shoulder Elbow Surg 23:e68–e72

    Article  PubMed  Google Scholar 

  29. Elliott AM, Kibria L, Reed MH (2010) The developmental spectrum of proximal radioulnar synostosis. Skeletal Radiol 39:49–54

    Article  PubMed  Google Scholar 

  30. Rizzo R, Pavone V, Corsello G et al (1997) Autosomal dominant and sporadic radioulnar synostosis. Am J Med Genet 68:127–134

    Article  CAS  PubMed  Google Scholar 

  31. Karasick D (2004) Nursemaid elbow revisited and a review of congenital radioulnar synostosis. Radiographics 24:1608–1610

    Article  PubMed  Google Scholar 

  32. Agnew DK, Davis RJ (1993) Congenital unilateral dislocation of the radial head. J Pediatr Orthop 13:526–528

    Article  CAS  PubMed  Google Scholar 

  33. Reichenbach H, Hörmann D, Theile H (1995) Hereditary congenital posterior dislocation of radial heads. Am J Med Genet 55:101–104

    Article  CAS  PubMed  Google Scholar 

  34. McIntyre JD, Brooks A, Benson MK (2003) Humeroradial synostosis and the multiple synostosis syndrome: case report. J Pediatr Orthop B 12:192–196

    PubMed  Google Scholar 

  35. Kozin SH, Zlotolow DA (2015) Madelung deformity. J Hand Surg [Am] 40:2090–2098

    Article  Google Scholar 

  36. Ali S, Kaplan S, Kaufman T et al (2015) Madelung deformity and Madelung-type deformities: a review of the clinical and radiological characteristics. Pediatr Radiol 45:1856–1863

    Article  PubMed  Google Scholar 

  37. Schneider SL, Tosti A (2015) Tips to diagnose uncommon nail disorders. Dermatol Clin 33:197–205

    Article  CAS  PubMed  Google Scholar 

  38. Mankin HJ, Jupiter J, Trahan CA (2011) Hand and foot abnormalities associated with genetic diseases. Hand 6:18–26

    Article  PubMed  Google Scholar 

  39. Richert B, André J (2011) Nail disorders in children: diagnosis and management. Am J Clin Dermatol 12:101–112

    Article  PubMed  Google Scholar 

  40. Guo B, Lee SK, Paksima N (2013) Polydactyly: a review. Bull Hosp Jt Dis 71:17–23

    Google Scholar 

  41. Wassel HD (1969) The results of surgery for polydactyly of the thumb: a review. Clin Orthop Relat Res 64:175–193

    CAS  PubMed  Google Scholar 

  42. Qasi Q, Cassner EG (1988) Triphalangeal thumb. J Med Genet 25:505–520

    Article  Google Scholar 

  43. Tonkin MA (2014) On the classification of congenital thumb hypoplasia. J Hand Surg Eur 39:948–955

    Article  CAS  Google Scholar 

  44. Gerety EL, Grant I, Hopper MA (2015) Radiological imaging of congenital hand anomalies — a 6-year single-centre experience and what the hand surgeons want to know. Skeletal Radiol 44:549–556

    Article  PubMed  Google Scholar 

  45. Al-Qattan MM (2013) Classification of dorsal and ventral dimelia in humans. J Hand Surg Eur 38:928–933

    Article  CAS  Google Scholar 

  46. Little KJ, Cornwall R (2016) Congenital anomalies of the hand — principles of management. Orthop Clin N Am 47:153–168

    Article  Google Scholar 

  47. Temtamy SA, Aglan MS (2008) Brachydactyly. Orphanet J Rare Dis 3:15

    Article  PubMed  PubMed Central  Google Scholar 

  48. Pereda A, Garin I, Garcia-Barcina M et al (2013) Brachydactyly E: isolated or as a feature of a syndrome. Orphanet J Rare Dis 8:141

    Article  PubMed  PubMed Central  Google Scholar 

  49. Wilson LC, Trembath RC (1994) Albright’s hereditary osteodystrophy. J Med Genet 31:779–784

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  50. Goldfarb CA (2009) Congenital hand differences. J Hand Surg [Am] 34:1351–1356

    Article  Google Scholar 

  51. Choo AD, Mubarak SJ (2013) Longitudinal epiphyseal bracket. J Child Orthop 7:449–454

    Article  PubMed  PubMed Central  Google Scholar 

  52. Lee J, Ahn JK, Choi SH et al (2010) MRI findings in Kirner deformity: normal insertion of the flexor digitorum profundus tendon without soft-tissue enhancement. Pediatr Radiol 40:1572–1575

    Article  PubMed  Google Scholar 

  53. Pruszczynski B, Saller J, Rogers KJ et al (2015) Incidence of carpal coalition in the pediatric population. J Pediatr Orthop. doi: 10.1097/BPO.0000000000000639

  54. Friedman T, Reed M, Elliott AM (2009) The carpal bones in Poland syndrome. Skeletal Radiol 38:585–591

    Article  PubMed  Google Scholar 

  55. Kozin SH, Zlotolow DA (2015) Common pediatric congenital conditions of the hand. Plast Reconstr Surg 136:241e–257e

    Article  CAS  PubMed  Google Scholar 

  56. Wall LB, Bae DS, Oishi SN et al (2016) Synpolydactyly of the hand: a radiographic classification. J Hand Surg Eur 41:301–307

    Article  CAS  Google Scholar 

  57. Roje Z, Roje Z, Ninković M et al (2012) Reconstruction of the hand in Apert syndrome: two case reports and a literature review of updated strategies for diagnosis and management. Acta Chir Plast 54:13–18

    CAS  PubMed  Google Scholar 

  58. Kim JH, Rhee SH, Gong HS et al (2012) Characteristic radiographic features of the central ray in Apert syndrome. J Hand Surg Eur 38:257–264

    Article  Google Scholar 

  59. Harvey I, Brown S, Ayres O et al (2012) The Apert hand — angiographic planning of a single-stage, 5-digit release for all classes of deformity. J Hand Surg [Am] 37:152–158

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Radiology, Musculoskeletal Division, Penn Medicine University City, Perelman School of Medicine at the University of Pennsylvania, 3737 Market St., 7th floor, Philadelphia, PA, 19104, USA

    Matthew J. Winfeld

  2. Department of Radiology, Children’s National Medical Center, Washington, DC, USA

    Hansel Otero

Authors
  1. Matthew J. Winfeld
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Hansel Otero
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Matthew J. Winfeld.

Ethics declarations

Conflicts of interest

None

Additional information

CME activity

This article has been selected as the CME activity for the current month. Please visit the SPR Web site at www.pedrad.org on the Education page and follow the instructions to complete this CME activity.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Winfeld, M.J., Otero, H. Radiographic assessment of congenital malformations of the upper extremity. Pediatr Radiol 46, 1454–1470 (2016). https://doi.org/10.1007/s00247-016-3647-2

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00247-016-3647-2

Keywords

Search

Navigation