Radial Clubhand Workup
- Author: Scott H Kozin, MD; Chief Editor: Harris Gellman, MD more...
The appropriate workup for associated conditions necessitates referral to pediatric subspecialists. The heart is evaluated by means of auscultation and echocardiography. The kidneys are examined by means of ultrasonography, and the platelet status is assessed by means of 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, 7 years). However, a chromosomal challenge test is available that allows detection of the disease before 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. The pancytopenia can be treated with bone marrow transplantation, but even with these efforts, life expectancy is only estimated at 30 years (range, 0-50 years).
Plain radiographs are obtained to evaluate the degree of radial aplasia and to assess associated abnormalities of the elbow, wrist, and hand (see the image below).
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).
Buck-Gramcko D. Radialization as a new treatment for radial club hand. J Hand Surg [Am]. 1985 Nov. 10(6 Pt 2):964-8. [Medline].
Goldfarb CA, Wall L, Manske PR. Radial longitudinal deficiency: the incidence of associated medical and musculoskeletal conditions. J Hand Surg Am. 2006 Sep. 31(7):1176-82. [Medline].
Kozin SH. Upper-extremity congenital anomalies. J Bone Joint Surg Am. 2003 Aug. 85-A(8):1564-76. [Medline].
Goldfarb CA, Wall L, Manske PR. Radial longitudinal deficiency: the incidence of associated medical and musculoskeletal conditions. J Hand Surg [Am]. 2006 Sep. 31(7):1176-82. [Medline].
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. 1998 Dec 15. 282(6):628-68. [Medline].
Kozin SH. Congenital anomalies. Trumble TE, ed. Hand Surgery Update. Rosemont, Ill: American Society for Surgery of the Hand; 2003. 599-624.
Thirkannad SM, Burgess RC. A technique for using the Ilizarov fixator for primary centralization in radial clubhand. Tech Hand Up Extrem Surg. 2008 Jun. 12(2):71-8. [Medline].
Sabharwal S. Treatment of traumatic radial clubhand deformity with bone loss using the Ilizarov apparatus. Clin Orthop Relat Res. 2004 Jul. 143-8. [Medline].
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].
Manske PR, McCarroll HR Jr, Swanson K. Centralization of the radial club hand: an ulnar surgical approach. J Hand Surg [Am]. 1981 Sep. 6(5):423-33. [Medline].
Bayne LG, Klug MS. Long-term review of the surgical treatment of radial deficiencies. J Hand Surg [Am]. 1987 Mar. 12(2):169-79. [Medline].
Bora FW Jr, Nicholson JT, Cheema HM. Radial meromelia. The deformity and its treatment. J Bone Joint Surg Am. 1970 Jul. 52(5):966-79. [Medline].
Bora FW Jr, Osterman AL, Kaneda RR, et al. Radial club-hand deformity. Long-term follow-up. J Bone Joint Surg Am. 1981 Jun. 63(5):741-5. [Medline].
Damore E, Kozin SH, Thoder JJ, et al. The recurrence of deformity after surgical centralization for radial clubhand. J Hand Surg [Am]. 2000 Jul. 25(4):745-51. [Medline].
Lamb DW. Radial club hand. A continuing study of sixty-eight patients with one hundred and seventeen club hands. J Bone Joint Surg Am. 1977 Jan. 59(1):1-13. [Medline].
Watson HK, Beebe RD, Cruz NI. A centralization procedure for radial clubhand. J Hand Surg [Am]. 1984 Jul. 9(4):541-7. [Medline].
Kotwal PP, Varshney MK, Soral A. Comparison of surgical treatment and nonoperative management for radial longitudinal deficiency. J Hand Surg Eur Vol. 2012 Feb. 37(2):161-9. [Medline].
Vilkki SK. Vascularized metatarsophalangeal joint transfer for radial hypoplasia. Semin Plast Surg. 2008 Aug. 22(3):195-212. [Medline]. [Full Text].
Wilks DJ, Kay SP, Bourke G. Fanconi's anaemia and unilateral thumb polydactyly--don't miss it. J Plast Reconstr Aesthet Surg. 2012 Aug. 65(8):1083-6. [Medline].
Koskimies E, Lindfors N, Gissler M, Peltonen J, Nietosvaara Y. Congenital upper limb deficiencies and associated malformations in Finland: a population-based study. J Hand Surg Am. 2011 Jun. 36(6):1058-65. [Medline].
Manske PR, McCarroll HR Jr, James M. Type III-A hypoplastic thumb. J Hand Surg [Am]. 1995 Mar. 20(2):246-53. [Medline].
James MA, McCarroll HR Jr, Manske PR. The spectrum of radial longitudinal deficiency: a modified classification. J Hand Surg [Am]. 1999 Nov. 24(6):1145-55. [Medline].
Kozin SH, Weiss AA, Webber JB, et al. Index finger pollicization for congenital aplasia or hypoplasia of the thumb. J Hand Surg [Am]. 1992 Sep. 17(5):880-4. [Medline].
Takagi T, Seki A, Mochida J, Takayama S. Bone lengthening of the radius with temporary external fixation of the wrist for mild radial club hand. J Plast Reconstr Aesthet Surg. 2014 Dec. 67 (12):1688-93. [Medline].
Romana C, Ciais G, Fitoussi F. Treatment of severe radial club hand by distraction using an articulated mini-rail fixator and transfixing pins. Orthop Traumatol Surg Res. 2015 Jun. 101 (4):495-500. [Medline].
Koca K, Akpancar S, Yıldız C. Correction of Length Discrepancy of Radius and Ulna with Distraction Osteogenesis: Three Cases. Case Rep Orthop. 2015. 2015:656542. [Medline].
Catagni MA, Szabo RM, Cattaneo R. Preliminary experience with Ilizarov method in late reconstruction of radial hemimelia. J Hand Surg [Am]. 1993 Mar. 18(2):316-21. [Medline].
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]. 1999 Mar. 24(2):331-8. [Medline].
Vilkki SK. Distraction and microvascular epiphysis transfer for radial club hand. J Hand Surg [Br]. 1998 Aug. 23(4):445-52. [Medline].
de Jong JP, Moran SL, Vilkki SK. Changing paradigms in the treatment of radial club hand: microvascular joint transfer for correction of radial deviation and preservation of long-term growth. Clin Orthop Surg. 2012 Mar. 4 (1):36-44. [Medline].
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]. 2006 Jul-Aug. 31(6):952-9. [Medline].
Kanojia RK, Sharma N, Kapoor SK. Preliminary soft tissue distraction using external fixator in radial club hand. J Hand Surg Eur Vol. 2008 Oct. 33(5):622-7. [Medline].
McCarroll HR. Congenital anomalies: a 25-year overview. J Hand Surg [Am]. 2000 Nov. 25(6):1007-37. [Medline].
Sestero AM, Van Heest A, Agel J. Ulnar growth patterns in radial longitudinal deficiency. J Hand Surg [Am]. 2006 Jul-Aug. 31(6):960-7. [Medline].
Launay F, Glard Y, Jacopin S, Jouve JL, Bollini G. [Progressive correction of the hand in the congenital radial clubhand.]. Chir Main. 2008 Aug 21. [Medline].
|Syndrome or Association||Characteristics|
|Holt-Oram||Heart defects, most commonly cardiac septal defects|
|Thrombocytopenia-absent radius (TAR) syndrome||Thrombocytopenia present at birth (may require transfusions), but improves over time|
|VACTERL association||Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula, esophageal atresia, renal defects, radial dysplasia, lower-limb abnormalities|
|Fanconi anemia||Aplastic anemia not present at birth, develops about 6 years of life|
|CHARGE syndrome||Coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth or development, genital or urinary abnormalities, and ear abnormalities and deafness|
|Type||Thumb Anomaly||Carpal Anomaly*||Distal Radius||Proximal Radius|
|N||Absence or hypoplasia||Normal||Normal||Normal|
|O||Absence or hypoplasia||Absence, hypoplasia, or coalition||Normal||Normal, radioulnar synostosis, or radial head dislocation|
|1||Absence or hypoplasia||Absence, hypoplasia, or coalition||>2 mm shorter than ulna||Normal, radioulnar synostosis, or radial head dislocation|
|2||Absence or hypoplasia||Absence, hypoplasia, or coalition||Hypoplasia||Hypoplasia|
|3||Absence or hypoplasia||Absence, hypoplasia, or coalition||Physis absent||Variable hypoplasia|
|4||Absence or hypoplasia||Absence, hypoplasia, or coalition||Absence||Absence|
|*Carpal anomaly implies hypoplasia, coalition, absence or bipartite carpal bones. Hypoplasia and absence are more common on the radial side of the carpus, and coalitions are more frequent on the ulnar side.|