eMedicine Specialties > Orthopedic Surgery > Hand & Upper Extremity

Radial Clubhand: Workup

Author: Scott H Kozin, MD, Associate Professor of Orthopedic Surgery, Temple University; Hand Surgeon, Department of Orthopedic Surgery, Shriners Hospital for Children
Contributor Information and Disclosures

Updated: Feb 5, 2009

Workup

Laboratory Studies

The appropriate workup for associated conditions necessitates referral to pediatric subspecialists.5 The heart is evaluated by auscultation and echocardiography. The kidneys are examined by ultrasound, and the platelet status is assessed by blood count and peripheral blood smear.

The most devastating associated condition is Fanconi anemia. Children with Fanconi anemia do not have signs of bone marrow failure at birth; therefore, the diagnosis is not initially apparent. The majority of children experience signs of aplastic anemia between the ages of 3 and 12 years (median age of 7 years). However, a chromosomal challenge test is available that allows detection of the disease prior to the onset of bone marrow failure. This assay subjects a sample of the child’s lymphocytes to diepoxybutane or mitomycin C, which cause chromosomes within Fanconi anemia cells to break and rearrange. In contrast, lymphocytes in unaffected children are stable to these agents. 

Because  bone  marrow transplant is the only cure for Fanconi anemia, this prefatory diagnosis is crucial for the child and family. Early diagnosis provides ample time to search for a suitable bone marrow donor or consider preimplantation genetic diagnosis (PGD). PGD is a sophisticated technique that involves in vitro fertilization, sampling of the blastocytes to ensure human leukocyte antigen (HLA) similarity without Fanconi disease, and reimplantation until birth. At delivery, cord blood is harvested from the newborn and used as a source of stem cell transplant to the affected sibling. Since PGD takes time, early detection via a chromosomal challenge test is critical and may ultimately save the affected child.

Children with VACTERL syndrome warrant additional evaluation for spinal abnormalities, such as congenital scoliosis, and require radiographs of the spinal column. Children with VACTERL syndrome often appear similar to children with Fanconi anemia; they are of small stature, have feeding difficulties, and have similar musculoskeletal anomalies. Therefore, a chromosomal challenge test is warranted in a child with a presumed diagnosis of VACTERL syndrome.

Imaging Studies

  • Plain radiographs are obtained to evaluate the degree of radial aplasia and to assess associated abnormalities of the elbow, wrist, and hand (see Image 2).
Radiograph of type IV deficiency with complete ab...

Radiograph of type IV deficiency with complete absence of the radius.

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Radiograph of type IV deficiency with complete ab...

Radiograph of type IV deficiency with complete absence of the radius.

  • In radial clubhand, ossification is delayed, and final determination of complete aplasia of the radius or carpus must be deferred until later (up to the age of 8 years).

More on Radial Clubhand

Overview: Radial Clubhand
Workup: Radial Clubhand
Treatment: Radial Clubhand
Follow-up: Radial Clubhand
Multimedia: Radial Clubhand
References
Further Reading
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References

  1. Buck-Gramcko D. Radialization as a new treatment for radial club hand. J Hand Surg [Am]. Nov 1985;10(6 Pt 2):964-8. [Medline].

  2. Saunders JW Jr. The proximo-distal sequence of origin of the parts of the chick wing and the role of the ectoderm. 1948. J Exp Zool. Dec 15 1998;282(6):628-68. [Medline].

  3. Kozin SH. Congenital anomalies. In: Trumble TE, ed. Hand Surgery Update. Rosemont, Ill: American Society for Surgery of the Hand; 2003:599-624.

  4. James MA, McCarroll HR Jr, Manske PR. The spectrum of radial longitudinal deficiency: a modified classification. J Hand Surg [Am]. Nov 1999;24(6):1145-55. [Medline].

  5. Kozin SH. Upper-extremity congenital anomalies. J Bone Joint Surg Am. Aug 2003;85-A(8):1564-76. [Medline].

  6. Manske PR, McCarroll HR Jr, James M. Type III-A hypoplastic thumb. J Hand Surg [Am]. Mar 1995;20(2):246-53. [Medline].

  7. Kozin SH, Weiss AA, Webber JB, et al. Index finger pollicization for congenital aplasia or hypoplasia of the thumb. J Hand Surg [Am]. Sep 1992;17(5):880-4. [Medline].

  8. Damore E, Kozin SH, Thoder JJ, et al. The recurrence of deformity after surgical centralization for radial clubhand. J Hand Surg [Am]. Jul 2000;25(4):745-51. [Medline].

  9. Goldfarb CA, Wall L, Manske PR. Radial longitudinal deficiency: the incidence of associated medical and musculoskeletal conditions. J Hand Surg [Am]. Sep 2006;31(7):1176-82. [Medline].

  10. Vilkki SK. Distraction and microvascular epiphysis transfer for radial club hand. J Hand Surg [Br]. Aug 1998;23(4):445-52. [Medline].

  11. Goldfarb CA, Murtha YM, Gordon JE, et al. Soft-tissue distraction with a ring external fixator before centralization for radial longitudinal deficiency. J Hand Surg [Am]. Jul-Aug 2006;31(6):952-9. [Medline].

  12. Kanojia RK, Sharma N, Kapoor SK. Preliminary soft tissue distraction using external fixator in radial club hand. J Hand Surg Eur Vol. Oct 2008;33(5):622-7. [Medline].

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  14. Sestero AM, Van Heest A, Agel J. Ulnar growth patterns in radial longitudinal deficiency. J Hand Surg [Am]. Jul-Aug 2006;31(6):960-7. [Medline].

  15. Launay F, Glard Y, Jacopin S, Jouve JL, Bollini G. [Progressive correction of the hand in the congenital radial clubhand.]. Chir Main. Aug 21 2008;[Medline].

  16. Thirkannad SM, Burgess RC. A technique for using the Ilizarov fixator for primary centralization in radial clubhand. Tech Hand Up Extrem Surg. Jun 2008;12(2):71-8. [Medline].

  17. Sabharwal S. Treatment of traumatic radial clubhand deformity with bone loss using the Ilizarov apparatus. Clin Orthop Relat Res. Jul 2004;143-8. [Medline].

  18. Heikel HV. Aplasia and hypoplasia of the radius: studies on 64 cases and on epiphyseal transplantation in rabbits with the imitated defect. Acta Orthop Scand Suppl. 1959;39:1-155. [Medline].

  19. Manske PR, McCarroll HR Jr, Swanson K. Centralization of the radial club hand: an ulnar surgical approach. J Hand Surg [Am]. Sep 1981;6(5):423-33. [Medline].

  20. Bayne LG, Klug MS. Long-term review of the surgical treatment of radial deficiencies. J Hand Surg [Am]. Mar 1987;12(2):169-79. [Medline].

  21. Bora FW Jr, Nicholson JT, Cheema HM. Radial meromelia. The deformity and its treatment. J Bone Joint Surg Am. Jul 1970;52(5):966-79. [Medline].

  22. Bora FW Jr, Osterman AL, Kaneda RR, et al. Radial club-hand deformity. Long-term follow-up. J Bone Joint Surg Am. Jun 1981;63(5):741-5. [Medline].

  23. Lamb DW. Radial club hand. A continuing study of sixty-eight patients with one hundred and seventeen club hands. J Bone Joint Surg Am. Jan 1977;59(1):1-13. [Medline].

  24. Watson HK, Beebe RD, Cruz NI. A centralization procedure for radial clubhand. J Hand Surg [Am]. Jul 1984;9(4):541-7. [Medline].

  25. Goldfarb CA, Klepps SJ, Dailey LA, et al. Functional outcome after centralization for radius dysplasia. J Hand Surg [Am]. Jan 2002;27(1):118-24. [Medline].

  26. Catagni MA, Szabo RM, Cattaneo R. Preliminary experience with Ilizarov method in late reconstruction of radial hemimelia. J Hand Surg [Am]. Mar 1993;18(2):316-21. [Medline].

  27. Raimondo RA, Skaggs DL, Rosenwasser MP, et al. Lengthening of pediatric forearm deformities using the Ilizarov technique: functional and cosmetic results. J Hand Surg [Am]. Mar 1999;24(2):331-8. [Medline].

  28. Ponde V, Athani B, Thruppal S. Infraclavicular coracoid approach brachial plexus block for radial club hand repair. Paediatr Anaesth. Sep 2007;17(9):863-6. [Medline].

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Further Reading

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Keywords

radial clubhand, radial deficiency, pre-axial deficiency, preaxial deficiency, forearm deformity, hand deformity, congenital hand deformity, thumb hypoplasia, Holt-Oram syndrome, cardiac septal defects, thrombocytopenia with absent radius, TAR, Fanconi anemia, aplastic anemia, VACTERL syndrome, cleft palate, clubfoot, kyphosis, scoliosis, torticollis, rib deformities, congenital spinal deformity

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Contributor Information and Disclosures

Author

Scott H Kozin, MD, Associate Professor of Orthopedic Surgery, Temple University; Hand Surgeon, Department of Orthopedic Surgery, Shriners Hospital for Children
Scott H Kozin, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Orthopaedic Surgeons, American Association for Hand Surgery, American Orthopaedic Association, American Society for Surgery of the Hand, and Pennsylvania Orthopaedic Society
Disclosure: Nothing to disclose.

Medical Editor

A Lee Osterman, MD, Director of Hand Surgery Fellowship, Director, Philadelphia Hand Center; Director, Professor, Department of Orthopedic Surgery, Division of Hand Surgery, University Hospital, Thomas Jefferson University
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

N Ake Nystrom, MD, PhD, Associate Professor of Orthopedic Surgery and Plastic Surgery, University of Nebraska Medical Center
Disclosure: Nothing to disclose.

CME Editor

Dinesh Patel, MD, FACS, Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital
Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Association of Physicians of Indian Origin, American College of International Physicians, and American College of Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Harris Gellman, MD, Consulting Surgeon, Broward Hand Center; Voluntary Clinical Professor of Orthopedic Surgery and Plastic Surgery, Departments of Orthopedic Surgery and Surgery, University of Miami School of Medicine
Harris Gellman, MD is a member of the following medical societies: American Academy of Medical Acupuncture, American Academy of Orthopaedic Surgeons, American Orthopaedic Association, American Society for Surgery of the Hand, and Arkansas Medical Society
Disclosure: Nothing to disclose.

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