A child with longitudinal cleavage of the upper extremity: treatment and etiology considerations.

We report a 4-year-old boy with a normal right upper extremity and 2 left upper extremities. These extremities included one with radial components including the radius and rudimentary thumb ray extended from the humerus in the more superior extremity, and another with the ulna and ulnar hand elements attached more inferiorly to the thorax. The patient had normal shoulder motion but no other function in the more superior extremity; the inferior extremity had active flexion and extension of the 2 fingers. We excised the nonfunctioning radius and thumb and performed an "on-top-plasty" by mobilizing the inferior extremity on its neurovascular pedicle and fusing the ulna to the distal aspect of the humerus of the superior extremity. This unusual clinical presentation may represent a proximal manifestation of central longitudinal deficiency with early limb bud cleavage affecting the apical ectodermal ridge and underlying mesoderm.

Ulnocarpal epiphyseal arthrodesis for recurrent deformity after centralization for radial longitudinal deficiency.

PURPOSE: To report our results for ulnocarpal epiphyseal arthrodesis for recurrent or late-presenting wrist deformity in patients with radial longitudinal deficiency, using both objective data and long-term subjective follow-up evaluation. METHODS: A retrospective review of our surgical logs between 1970 and 2007 identified 12 postcentralization patients treated with ulnocarpal epiphyseal arthrodesis, and 1 patient (who had reached skeletal maturity) treated with traditional ulnocarpal arthrodesis. Indications for the arthrodesis included postcentralization recurrence of radial angulation to greater than 45°, an inability to actively extend the wrist to within 25° of neutral (ie, 25° of flexion), or both. We collected objective and radiographic data on all 12 patients by chart review at a mean of 89 months (range, 2-472 mo) after arthrodesis. We collected subjective data from 9 patients at a mean of 160 months (range, 14-602 mo) after arthrodesis. RESULTS: Ulnocarpal union was obtained in 11 wrists at an average of 4 months (range, 2-6 mo); the 1 case of nonunion was treated successfully with revision arthrodesis. The mean radial angulation position was 20° after arthrodesis (range, 0° to 35°), an average improvement of 42°. The mean position of wrist fusion was 11° of flexion (range, 0° to 35° of flexion), an average improvement of 7°. The mean postoperative Disabilities of the Arm, Shoulder, and Hand score was 24.5 (SD, 12.3; range, 6.8-36.4). Final postoperative Visual Analog Score rating for function averaged 8 (range, 4-10); for appearance, it averaged 7 (range, 5-10), and for pain, it averaged 1 (range, 0-5). CONCLUSIONS: Ulnocarpal and epiphyseal arthrodesis are appropriate surgical procedures to stabilize the carpus in postcentralization patients with recurrent or late-presenting wrist deformity. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Developmental biology and classification of congenital anomalies of the hand and upper extremity.

Recent investigations into the mechanism of limb development have clarified the roles of several molecules, their pathways, and interactions. Characterization of the molecular pathways that orchestrate limb development has provided insight into the etiology of many limb malformations. In this review, we describe how the insights from developmental biology are related to clinically relevant anomalies and the current classification schemes used to define, categorize, and communicate patterns of upper limb malformations. We advocate an updated classification scheme for upper limb anomalies that incorporates our current molecular perspective of limb development and the pathogenetic basis for malformations using dysmorphology terminology. We anticipate that this scheme will improve the utility of a classification as a basis for diagnosis, treatment, and research.

Madelung's deformity: diagnostic thresholds of radiographic measurements.

PURPOSE: Although the x-ray changes of advanced Madelung's deformity are well described, little quantitative information exists on the subtle, early changes of the deformity. This study investigated the threshold of 4 radiographic measurements that predict a diagnosis of Madelung's deformity by experienced hand surgeons. METHODS: Ulnar tilt, lunate subsidence, lunate fossa angle, and palmar carpal displacement were measured on x-rays of patients with Madelung's deformity. For each set of x-rays 4 opinions were available concerning a diagnosis of Madelung's deformity as based on the x-rays only. The 4 quantitative measurements were examined to determine a threshold value that predicts a unanimous diagnosis of Madelung's deformity. RESULTS: The thresholds for the diagnosis of Madelung's deformity are: ulnar tilt of 33 degrees or greater, lunate subsidence of 4 mm or more, lunate fossa angle of 40 degrees or greater, and palmar carpal displacement of 20 mm or more. When any one of these measurements equaled or exceeded this threshold value, the raters were unanimous in establishing a diagnosis of Madelung's deformity. CONCLUSIONS: Threshold values of ulnar tilt, lunate subsidence, lunate fossa angle, and palmar carpal displacement for the diagnosis of Madelung's deformity are determined. Lunate fossa angle may prove especially useful in the diagnosis of early Madelung's deformity.

Incidence and treatment of complications, suboptimal outcomes, and functional deficiencies after pollicization.

PURPOSE: To evaluate the incidence and treatment of complications, suboptimal outcomes, and functional deficiencies after pollicization, and the need for additional surgical procedures. METHODS: A total of 73 index finger pollicizations performed by a single surgeon were identified. We retrospectively evaluated all available patient records for perioperative complications, suboptimal outcomes, and functional deficiencies of the pollicized digit. RESULTS: There were 8 complications in the perioperative period (including 3 cases of venous congestion, 4 cases of marginal necrosis, and 1 infection), requiring 12 surgical procedures; 1 pollicized digit was removed owing to nonviability. There were 8 suboptimal outcomes, including 7 cases of scar contracture and 1 with redundant skin, requiring 3 surgical procedures. Additional procedures related to functional deficiencies were performed in 26 total patients, 19 for poor opposition and 15 for limited extension. CONCLUSIONS: Most perioperative complications and suboptimal outcomes after pollicization are minor when an experienced surgeon is involved. Venous congestion, although uncommon, is a major viability risk and should be treated aggressively. In addition, a substantial number of pollicized digits have functional deficiencies related to anatomical limitations that can be addressed with muscle and tendon transfers. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Thumb in the plane of the hand: characterization and results of surgical treatment.

PURPOSE: The purpose of this retrospective investigation is to characterize a congenital deformity, the thumb in the plane of the hand (TPH), and to evaluate the results of abduction-rotation osteotomy of the thumb metacarpal with thumb web space deepening (WSD). METHODS: We performed a comprehensive analysis of the medical records, hand therapy notes, and radiographs to evaluate clinical features of the TPH deformity. We evaluated clinical and radiographic outcomes and incidence of deformity recurrence after abduction-rotation osteotomy and thumb WSD. RESULTS: Thirteen patients (7 girls and 6 boys) with 14 affected hands treated with an abduction-rotation osteotomy of the thumb metacarpal and formation of a deepened thumb-index web space met inclusion criteria. All TPH deformities were associated with other congenital conditions, including symbrachydactyly, syndactyly, central deficiency, and ulnar deficiency. During the course of treatment, patients had a mean of 4 surgeries per hand; 3 hands required osteotomy revision with or without revision WSD, and 6 additional hands required revision of thumb WSD alone. None of the affected hands were capable of thumb opposition to any finger before surgery, whereas after surgery, all 14 hands could actively perform key pinch, and 9 of the 14 hands could actively oppose the thumb to at least 1 finger. CONCLUSIONS: The TPH deformity occurs in association with other congenital abnormalities of the hand. An abduction-rotation osteotomy of the thumb metacarpal with thumb WSD can restore thumb opposition and improve function; nonetheless, multiple surgical procedures are often required, and thumb function may remain limited. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Central ray deficiency: subjective and objective outcome of cleft reconstruction.

PURPOSE: To assess the long-term subjective and objective outcome of cleft reconstruction in patients with central ray deficiency. METHODS: Twelve patients with 16 central ray deficiency hands were included. Each hand had been treated with cleft reconstruction using soft tissue and/or bony procedures. A surgeon and parent assessed the subjective outcome using a visual analog scale to compare preoperative and postoperative appearance. Objective outcome was assessed with a clinical examination for digital range of motion and with a radiographic examination for preoperative and postoperative divergence angles of the index finger and ring finger metacarpals and phalanges. RESULTS: The surgeon's visual analog scale score significantly increased from 4 to 7. Nine parents were very satisfied, 4 were satisfied, and 3 were somewhat satisfied with hand appearance. A ring finger proximal interphalangeal joint flexion contracture averaging 31 degrees was the most notable clinical finding. The metacarpal divergence angle significantly improved from 33 degrees to 12 degrees , and the phalangeal divergence angle significantly improved from 38 degrees to 12 degrees . CONCLUSIONS: Cleft reconstruction improves hand appearance in patients with central deficiency. A new technique of quantifying the radiographic divergence of the border rays of the cleft demonstrates improved alignment at long-term follow-up. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Thumb size and appearance following reconstruction of radial polydactyly.

PURPOSE: To evaluate thumb size, shape, and appearance after surgical correction of radial polydactyly. METHODS: Thirty-one reconstructed thumbs in 26 children with radial polydactyly were evaluated at an average of 45 months after surgery. The length, girth, nail width, and joint angulation were measured and compared with the contralateral side of patients with unilateral polydactyly and with standard thumb measurements for patients with bilateral involvement. A surgeon, therapist, and caregiver each subjectively assessed the aesthetic outcome, using a visual analog scale (VAS); raters also provided the principal reasons for their assessment of the altered appearance. RESULTS: The average length of the reconstructed thumb relative to the index finger proximal phalanx was 81%; that of the unaffected, contralateral thumb was 80%. The girth of the reconstructed thumb relative to the index finger was 102%; that of the contralateral thumb was 103%. Thumbnail width in proportion to index fingernail width was significantly decreased in the reconstructed thumbs, at 111% (compared with the contralateral value of 136%). The VAS scores averaged 7.7; the most common reason cited for decreased VAS score was an angulated thumb. Lower VAS scores were associated with Wassel type VI and VII thumbs and with increased interphalangeal, but not metacarpophalangeal, joint angulation. CONCLUSIONS: Thumb polydactyly reconstruction typically provides a satisfactory thumb appearance. The primary issues affecting appearance after reconstruction are reduced nail width, interphalangeal joint angulation, and presence of type VI and VII radial polydactyly.

Upper-extremity phocomelia reexamined: a longitudinal dysplasia.

BACKGROUND: In contrast to longitudinal deficiencies, phocomelia is considered a transverse, intercalated segmental dysplasia. Most patients demonstrate severe, but not otherwise classifiable, upper-extremity deformities, which usually cannot be placed into one of three previously described phocomelia groups. Additionally, these phocomelic extremities do not demonstrate true segmental deficits; the limb is also abnormal proximal and distal to the segmental defect. The purpose of this investigation was to present evidence that upper-extremity abnormalities in patients previously diagnosed as having phocomelia in fact represent a proximal continuum of radial or ulnar longitudinal dysplasia. METHODS: The charts and radiographs of forty-one patients (sixty extremities) diagnosed as having upper-extremity phocomelia were reviewed retrospectively. On the basis of the findings on the radiographs, the disorders were categorized into three groups: (1) proximal radial longitudinal dysplasia, which was characterized by an absent proximal part of the humerus, a nearly normal distal part of the humerus, a completely absent radius, and a radial-sided hand dysplasia; (2) proximal ulnar longitudinal dysplasia, characterized by a short one-bone upper extremity that bifurcated distally and by severe hand abnormalities compatible with ulnar dysplasia; and (3) severe combined dysplasia, with type A characterized by an absence of the forearm segment (i.e., the radius and ulna) and type B characterized by absence of the arm and forearm (i.e., the hand attached to the thorax). RESULTS: Twenty-nine limbs in sixteen patients could be classified as having proximal radial longitudinal dysplasia. Systemic medical conditions such as thrombocytopenia-absent radius syndrome were common in those patients, but additional musculoskeletal conditions were rare. Twenty limbs in seventeen patients could be classified as having proximal ulnar longitudinal dysplasia. Associated musculoskeletal abnormalities, such as proximal femoral focal deficiency, were common in those patients. Eleven limbs in ten patients were identified as having severe combined dysplasia, which was type A in seven of them and type B in four. Four patients with severe combined dysplasia had congenital cardiac anomalies, and four had associated musculoskeletal abnormalities. Three of the four patients with the type-B disorder had a contralateral ulnar longitudinal dysplasia. CONCLUSIONS: We propose that cases previously classified as upper-extremity phocomelia represent a spectrum of severe longitudinal dysplasia, as none of the sixty extremities that we studied demonstrated a true intercalary deficiency. These findings have both developmental and genetic implications.

History of flexor tendon repair.

The first issue of Hand Clinics published 20 years ago was devoted to flexor tendon injuries. This was most appropriate, because no subject in hand surgery has sparked more interest or discussion. That inaugural issue included excellent presentations on the basic science of tendon injuries (anatomy, biomechanics, nutrition, healing, adhesions) and the clinical practice of tendon repair. Of interest, there was no presentation on the fascinating history of flexor tendon surgery. It is most appropriate, therefore, that this current update of the flexor tendon begins with a historical review of the evolution of flexor tendon repair.

The association of radial deficiency with thumb hypoplasia.

BACKGROUND: Congenital longitudinal deficiencies of the radius and thumb are known to be associated with one another; however, the details of their relationship are unknown. The purpose of this study was to determine whether increased severity of radial deficiencies is associated with increased severity of thumb deficiencies and to review the relationship between radial deficiency and reconstructibility of a hypoplastic thumb. METHODS: Radiographs and charts of 227 affected upper extremities of 139 patients with radial longitudinal deficiency were reviewed. The associated thumb deficiency was classified according to a modification of the Blauth and Schneider-Sickert scheme and the radial deficiency was classified according to a modification of the Bayne and Klug criteria for 191 extremities of 119 patients. RESULTS: The severity of the thumb deficiency was directly proportional to the severity of the radial deficiency (p < 0.0001). Half of the extremities had either a thumb deficiency or thumb and carpal deficiencies without radial deficiency. Two-thirds (sixty-three) of the ninety-five limbs with a normal radius had a thumb that could be surgically reconstructed. Seventy-one (91%) of seventy-eight extremities with a thumb amenable to surgical reconstruction had a radius that did not require surgical reconstruction. All extremities with a radial and/or carpal deficiency had a thumb deficiency. Forty-eight (94%) of fifty-one extremities with complete absence of the radius had a thumb that was not reconstructible. CONCLUSIONS: This study supports the growing body of evidence that the components of radial longitudinal deficiency represent a progressive spectrum of upper extremity abnormalities, and a distal progression of severity, with distal structures likely to be more involved than proximal structures.

Index pollicization for thumb deficiency.

The surgical technique for carrying out pollicization has been organized into 10 steps. The procedure emphasizes not only maximizing function of the transposed index finger to the position of the thumb, but also giving the transposed digit the appearance of a thumb.

Clinical assessment of the ulnar nerve at the elbow: reliability of instability testing and the association of hypermobility with clinical symptoms.

BACKGROUND: Ulnar nerve hypermobility has been reported to be present in 2% to 47% of asymptomatic individuals. To our knowledge, the physical examination technique for diagnosing ulnar nerve hypermobility has not been standardized. This study was designed to quantify the interobserver reliability of the physical examination for ulnar nerve hypermobility and to determine whether ulnar nerve hypermobility is associated with clinical symptoms. METHODS: Four hundred elbows in 200 volunteer participants were examined. Each participant was queried regarding symptoms attributable to the ulnar nerve. Three examiners, unaware of reported symptoms, independently performed a standardized examination of both elbows to assess ulnar nerve hypermobility. Ulnar nerves were categorized as stable or as hypermobile, which was further subclassified as perchable, perching, or dislocating. Provocative maneuvers, consisting of the Tinel test and flexion compression testing, were performed, and structural measurements were recorded. Kappa values quantified the examination's interobserver reliability. Unpaired t tests, chi-square tests, Wilcoxon tests, and Fisher exact tests were utilized to compare data between those with hypermobile nerves and those with stable nerves. RESULTS: Ulnar nerve hypermobility was identified in 37% (148) of the 400 elbows. Hypermobility was bilateral in 30% (fifty-nine) of the 200 subjects. For the three examiners, weighted kappa values on the right and left sides were 0.70 and 0.74, respectively. Elbows with nerve hypermobility did not experience a higher prevalence of subjective symptoms (snapping, pain, and tingling) than did elbows with stable nerves. Provocative physical examination testing for ulnar nerve irritability, however, showed consistent trends toward heightened irritability in hypermobile nerves (p = 0.04 to 0.16). Demographic data and anatomic measurements were similar between the subjects with stable nerves and those with hypermobile nerves. CONCLUSIONS: Ulnar nerve hypermobility occurs in over one-third of the adult population. Utilizing a standardized physical examination, a diagnosis of ulnar nerve hypermobility can be established with substantial interobserver reliability. In the general population, ulnar nerve hypermobility does not appear to be associated with an increased symptomatology attributable to the ulnar nerve.

Congenital failure of formation of the upper limb.

This article provides an overview of the various classification systems for radial longitudinal, central longitudinal, and ulnar longitudinal deficiencies. It looks specifically at radius deficiency, hypoplastic thumb, index finger pollicization, narrowed thumb web, forearm-elbow deformities, and hand abnormalities. Various surgical approaches to these conditions and their results are explored. The authors conclude that longitudinal failure of formation deformities comprises a substantial portion of the anomalies of the upper limb. Although much of the past and current congenital hand literature has been devoted to these conditions, they continue to be a reconstructive challenge to hand surgeons involved in their care.

Madelung's deformity: a spectrum of presentation.

PURPOSE: To evaluate the hypotheses that all Madelung's deformity subjects have dyschondrosteosis (defined as short stature and mesomelia, in addition to Madelung's deformity) and to evaluate the concept that Madelung's deformity may affect the entire radius. METHODS: A radiographic and medical records review was performed for 26 subjects (46 extremities) with Madelung's deformity. The radiographs were assessed for radius and ulna length, sagittal radial bow, severity of the Madelung deformity, and radiocapitellar joint space. The sagittal radial bow and the radiocapitellar joint space were used to classify subjects according to whether the Madelung deformity was limited to the distal radius or involved the entire radius. RESULTS: Thirty-one extremities in 18 subjects were classified as having a distal radius Madelung deformity and 15 extremities in 8 subjects were classified as having an entire radius Madelung deformity. The radius and ulna length and subject height were significantly decreased compared with age- and height-matched normal values in both groups; the entire radius group was more severely affected. In addition, the entire radius group had more severe deformities with respect to lunate subsidence and ulnar tilt. All of the entire radius subjects and 9 of 14 of the distal radius subjects had dyschondrosteosis. CONCLUSIONS: Madelung's deformity presents as a spectrum. It may affect the entire radius or it may affect only the distal radius. Extremities with involvement of the entire radius have a shorter radius and ulna, decreased height, and a more severe deformity than extremities with involvement of only the distal radius. Additionally, most subjects with Madelung's deformity have dyschondrosteosis.