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Congenital Deformities of the Upper Extremity

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Congenital Deformities of the Upper Extremity Congenital Deformities of the Upper Extremity Gregory G. Gallant, MD, and F. William Bora, Jr, MD Abstract Congenital deformities of the upper extremity are rare. They are often associated overgrowth, undergrowth, constric- with other, more severe disorders of the cardiovascular, craniofacial, neurologic, tion bands, and generalized skeletal and musculoskeletal systems. Most upper-extremity congenital anomalies are mi- abnormalities. nor and cause no functional deficits, and surgical reconstruction is therefore un- necessary. If a severe cosmetic deformity is present or there is significant functional compromise, surgical treatment is indicated. The authors review the General Treatment common congenital deformities of the upper extremity and offer treatment recom- Principles mendations. J Am Acad Orthop Surg 1996;4:162-171 Children have an exceptional ability to compensate for their deformities. Treatment should improve the child’s function, not compromise it. A congenital anomaly of the upper tion. Programmed cell death then If surgery is selected, the timing de- extremity is present in 1 of every 626 occurs between digits, and finger pends on the specific anomaly; usu- live births.1 In most cases, the defor- separation is complete by 8 weeks. ally, however, the procedure is mity is minor and causes no func- The hands begin to move at 9 weeks’ performed between the ages of 6 tional deficit, but in 10% the patient gestation, at which time skin creases and 18 months.3 Conditions that requires treatment.2 Such anomalies begin to develop. threaten limb viability, such as con- are often associated with cardiovas- striction bands, should be treated cular, craniofacial, neurologic, and earlier.5 other musculoskeletal abnormali- Etiology ties. If treatment is needed, an inte- grated team approach, involving the The cause of 40% to 50% of congeni- Failure of Transverse physician, the therapist, and the par- tal hand anomalies is unknown.2 The Formation ents, should be used. remainder are due to genetic abnor- malities or exposure to environmen- Congenital Amputations tal teratogens. Genetic abnormalities Congenital amputations are clas- Embryology include single-gene, multiple-gene, sified according to the level of in- and chromosomal disorders.1 volvement: complete arm, midarm, Development of the upper extremity proximal forearm, wrist, midhand, precedes that of the lower extremity by 1 week and occurs in a proximal Classification to distal sequence.3 At 4 weeks, a Dr. Gallant is a Hand Surgery Fellow, Univer- sity of Pennsylvania School of Medicine, bulge of the lateral body wall arises The classification system developed Philadelphia. Dr. Bora is Professor of Or- 4 from the 8th through the 10th by Swanson et al is currently accepted thopaedic Surgery and Chief, Hand Surgery, somites. This primitive limb bud by the American Society for Surgery of University of Pennsylvania School of Medicine. consists of undifferentiated mes- the Hand and the International Feder- enchyme. The growth of the limb ation of Societies for Surgery of the Reprint requests: Dr. Gallant, 103 Progress Drive, Suite 300, Doylestown, PA 18901. bud is under the control of the over- Hand. This system separates the con- lying ectodermal tissue, termed the genital hand anomalies into seven ma- Copyright 1996 by the American Academy of Or- apical ectodermal ridge. The hand jor categories: failure of formation, thopaedic Surgeons. paddle appears at 5 weeks’ gesta- failure of differentiation, duplication, 162 Journal of the American Academy of Orthopaedic Surgeons Gregory G. Gallant, MD, and F. William Bora, Jr, MD and fingers.1 The most common is a Treatment is usually nonsurgical. common variety, there is complete proximal forearm amputation.6 Some patients benefit from use of a absence of the radius (Fig. 1). Parts distal to the amputation level prosthesis and limb training. Skele- Radial club hand occurs in 1 of are either rudimentary or absent. tal lengthening and tendon transfer every 100,000 births and is bilateral The proximal limb segment is often may improve function and stability.5 in 50% of patients.2 The cause is un- abnormal as well. In the majority of known, and most cases are sporadic. cases, the abnormality is unilateral. Environmental causes, such as thal- The reported incidence is 1 in Failure of Longitudinal idomide, have been implicated.5 20,000 live births for forearm ampu- Formation Radial club hand can be associated tations and 1 in 270,000 for arm am- with cardiac abnormalities (Holt- putations.5 The cause is usually Radial Club Hand (Radial Oram syndrome), aplastic anemia unknown, although transmission as Deficiency) (Fanconi’s anemia), thrombocytope- an autosomal-recessive trait has been Radial club hand is a preaxial de- nia, and the VATER complex (the reported.6 Associated musculoskele- formity resulting from partial or syndrome that is characterized by tal anomalies may include clubfoot, complete absence of the radius. The vertebral anomalies, imperforate meningocele, radial-head disloca- forearm is short, and the wrist is ra- anus, tracheoesophageal aplasia, tion, and radioulnar synostosis.5 dially deviated. Complete or partial and renal anomalies).6 Treatment is usually conservative absence of the thumb and radial car- Treatment of type 1 and mild type and starts in infancy.1 A passive pus, combined with thenar muscle 2 deformities is serial casting and prosthetic device is fitted between 3 deficiency, is also common. The stretching.2 Occasionally, surgical re- and 6 months. A change is made to ulna is usually short and bowed. 1 lease of tight fascial or tendinous an active terminal device as the child Bayne has classified this disorder structures is required to position the grows. The Krukenberg procedure, into four types.5 Type 1 is character- hand in a straight position over the in which the radius and ulna are sep- ized by a short distal radius with de- forearm. Treatment for the more se- arated to function in a pincer fash- layed appearance of the distal vere type 2 deformities, as well as for ion, is indicated for blind patients epiphysis. In type 2 there is a hy- types 3 and 4, includes serial casting with bilateral upper-extremity am- poplastic radius with defective prox- and stretching, followed by central- putations.6 It may also be indicated imal and distal epiphyseal growth. ization or radialization of the carpus for unilateral amputees in underde- Type 3 is characterized by partial ab- over the ulna.2 There are a number of veloped countries where prostheses sence of the middle and distal thirds centralization techniques,6 which are unavailable.1 of the radius. In type 4, the most usually are performed between 6 Phocomelia Phocomelia, or abnormal proxi- mal-to-distal limb development, is classified into three types.1 In the first, or complete, type, the hand is attached directly to the trunk. In the second, or proximal, type, the arm segment is absent, and there is direct forearm-trunk articulation. In the third, or distal, type, the forearm segment is absent, and there is direct hand-arm articulation. The incidence of phocomelia is currently 1% of all congenital upper- extremity anomalies.5 The deformity was more prevalent during the decades when thalidomide was pre- scribed for pregnant women.1 Asso- A B ciated anomalies include radial-ray Fig. 1 Type 4 radial club hand in a 2-month-old boy. A, Clinical appearance. B, Radiographic deficiency of the opposite limb, cleft appearance. lip, and cleft palate.6 Vol 4, No 3, May/June 1996 163 Congenital Deformities of the Upper Extremity months and 1 year of age.5 Transfer of nar absence. This deformity is classi- dren may be treated with stretching the extensor carpi radialis longus to fied into four types.5 Type 1 is caused and serial splinting. A severe defor- the extensor carpi ulnaris is recom- by hypoplasia of the ulna. Type 2 is mity with dislocation of the proximal mended to prevent recurrent defor- characterized by partial absence of the radius may require excision of the mity.1 Lack of adequate elbow flexion ulna. In type 3 there is complete ab- proximal radius and fusion of the dis- for hand-to-mouth positioning is a sence of the ulna. Type 4 has associ- tal radius and proximal ulna (result- contraindication to surgery.5 Distrac- ated radiohumeral synostosis. Partial ing in a one-bone forearm). This is tion lengthening (Fig. 2) is now being ulnar absence is the most common recommended when elbow motion is used experimentally by many sur- presentation.5 The radial head is dis- restricted or elbow instability is pres- geons for correction,7 but is associated located in 50% of cases.1 ent.1 This procedure will stabilize the with a high complication rate. Congenital ulnar deficiency is forearm but sacrifices forearm rota- The mild thumb hypoplasia seen very rare. Flatt2 reports 1 case for tion, which is usually well compen- in type 1 deformities usually re- every 3.6 cases of radial club hand. sated for by shoulder motion. For quires no treatment. However, ap- The majority of cases occur sporadi- patients with radiohumeral synosto- propriate tendon transfers can cally and are unilateral. Most associ- sis and a severe internal rotation de- occasionally improve function.2 Pol- ated anomalies are musculoskeletal, formity, derotational osteotomy of licization of the index finger is rec- including proximal femoral focal de- the humerus to improve alignment ommended for more severe degrees ficiency, clubfoot, and spina bifida.6 may be considered.5 of hypoplasia or complete absence of Function in children with ulnar the thumb.8 This is usually per- club hand is surprisingly good com- Central-Ray Deficiency formed approximately 6 months af- pared with the poor function in pa- Central-ray deficiency is a failure of ter the centralization procedure.2 tients with radial club hand.
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