A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.

Feingold syndrome 1 (FGLDS1) is an autosomal dominant malformation syndrome, characterized by skeletal anomalies, microcephaly, facial dysmorphism, gastrointestinal atresias and learning disabilities. Mutations in the MYCN gene are known to be the cause of this syndrome. Congenital absence of the flexor pollicis longus (CAFPL) tendon is a rare hand anomaly. Most cases are sporadic and no genetic variants have been described associated with this abnormality. We describe here a pedigree combining familial CAFPL tendon as a feature of FGLDS1. Molecular analyses of whole exome sequence data in five affected family members spanning three generations of this family revealed a novel mutation in the MYCN gene (c.1171C>T; p.Arg391Cys). Variants in MYCN have not been published in association with isolated or syndromic CAFPL tendon, nor has this been described as a skeletal feature of Feingold syndrome. This report expands on the clinical and molecular spectrum of MYCN-related disorders and highlights the importance of MYCN protein in normal human thumb and foramen development.

Ulnocarpal translation in perilunate dislocations.

The purpose of this study was to assess ulnar translation in perilunate dislocation injuries. Twenty-five patients with perilunate dislocations were assessed after surgical reduction. Ulnar translation of the carpus and carpal collapse were measured using standard methods. Measurements before and after pin removal were compared. The average Gilula score for ulnar translation was 54%. Eighty percent of patients had ulnocarpal translation (above 50% of lunate uncovering) after reduction. Measurements of lunate uncovering in perilunate dislocations were significantly higher than normal values (P<0.01). Scores for patients in whom the ulnar translocation component was addressed by pinning during initial treatment were significantly improved. Measurements before and after pin removal were not significantly different irrespective of the method of measurement. IRB approval was obtained prior to study preparation.

The radiographic measurement of ulnar translation.

Our purpose was to quantify the Gilula score for measurement of lunate uncovering, to compare it with another method of measurement and to examine the reliability of these measurements in posteroanterior (PA) views in radial and ulnar deviation. Seventy-six normal wrist arthrograms were reviewed retrospectively. Carpal height and lunate uncovering measurements were made. Statistical analysis included mixed effects models to evaluate the difference between the mean measurements in each position. Reproducibility was assessed using imprecision estimates. Normal values for the Gilula method were 40% lunate uncovering in neutral, 49% in radial and 20% in ulnar deviation. There was a statistically significant difference between the values in the different views. Ulnar translation of the carpus can be measured reliably on neutral and radially deviated PA views using the Gilula method, but the different normal values for each view should be used. The Schuind method of measurement is comparable to the Gilula method in the neutral PA view.

Civilian gunshot wounds to the fingers treated with primary bone grafting.

Civilian gunshot injuries often consist of relative soft-tissue sparing and minimal contamination. Primary bone grafting with allograft for wounds limited to the digits was used in a one-stage reconstruction enabling bony union with minimal complications in this specific population. All patients suffering from small-calibre gunshot wounds to the hand treated between 2004 and 2006 with a single-stage surgery were reviewed. Surgery consisted of limited debridement and bone grafting of the fracture. Allomatrix was used in all of the patients. There were 12 patients; seven with isolated wounds to a finger. All of the patients had devastating bony injuries. The average follow-up period was 14 weeks. All patients progressed to bony healing. One patient had a second surgery for additional bone grafting. There were no complications. Relatively low contamination allows for primary bone grafting without increasing the risk of infection. This one-step approach to civilian gunshot wounds to the hand has minimal complications and allows for healing, while addressing the problem of non-compliance in this specific population.

Bone compression technique for arthrodesis and nonunion in the hand.

We present a simple compression technique for treatment of difficult nonunions and joint fusions in the hand. This technique utilizes only K-wires and small vessel loops. The results of 44 consecutive cases were studied retrospectively. Union was achieved in 37/44 cases. The average time to union was 7 weeks and our results were comparable to those of other studies. We found this technique useful, especially in complicated cases.

Patterns of healing of scaphoid fractures. The importance of vascularity.

We studied 45 patients with 46 fractures of the scaphoid who presented sequentially over a period of 21 months. MRI enabled us to relate the pattern of the fracture to the blood supply of the scaphoid. Serial MRI studies of the four main patterns showed that each followed a constant sequence during healing and failure to progress normally predicted nonunion.

Midshaft femoral fracture, concomitant ipsilateral hip joint injury, and disruption of the knee extensor mechanism: a unique triad of dashboard injury.

Our experience with 10 patients who suffered midshaft fractures of the femur and injuries to their ipsilateral hips has resulted in a treatment protocol that we believe can avoid unnecessary complications. The surgical protocol is a three-stage procedure based on (1) intramedullary nailing of the femur with interlocking for preserving the anatomic length and rotation of the femur; (2) treatment of the hip joint injury by means of open reduction and internal fixation of the acetabular fracture and/or reduction and fixation of the fractured femoral neck; and (3) repair of the extensor mechanism. Eight patients received this treatment and had fast recoveries. Union of the femoral fracture and full range of motion of the knee joint were observed within 3 months. In contrast, two patients who had received different surgical treatment had incomplete functional recoveries. This study offers a treatment protocol for ipsilateral disruption of the extensor mechanism, hip joint injury, and midshaft fracture of the femur in the multiply injured patient that can achieve full recovery with no complications. This relatively rare combination of injuries is definitely worthy of special attention.

Rupture of flexor pollicis longus tendon: a complication of volar plating of the distal radius.

We report three complete ruptures and one partial rupture of the flexor pollicis longus tendon in association with the insertion of a volar plate for the treatment of fracture of the distal radius. Rupture was associated with the chronic use of steroids.

Operative treatment of intraarticular distal radial fractures.

Intraarticular fractures of the distal radius are difficult to treat successfully by traditional non-operative methods. The goal is to achieve a pain free functional wrist, and residual articular step offs of 2 mm or more will prevent such a result. Classification systems have evolved to reflect the preeminent consideration that must be given to the articular surface, and preoperative radiographic evaluation should usually include tomographic imaging to avoid a failure to recognize the fragment positions. A number of papers of the past decade have demonstrated that operative reduction of intraarticular fragments to reconstruct the articular surface and diminish step offs will give better clinical results, at least during the first several years of followup so far available. Attention to meticulous surgical technique will facilitate good results.