Marybeth Ezaki

Dynamic External Fixation of Unstable Fractures of the Distal Part of the Radius. A Prospective, Randomized Comparison with Static External Fixation.

A prospective, randomized study was done to compare the results of dynamic external fixation (the Clyburn device) with those of static external fixation (the AO/ASIF device) in the treatment of fifty unstable fractures of the distal part of the radius. Mobilization of the wrist from neutral to 30 degrees of flexion was begun in the dynamic-fixator group at approximately two weeks, and full motion, allowing 30 degrees of extension, was started at approximately four weeks. The external fixation frames in both groups were kept in place for approximately ten weeks. Mobilization of the wrist in the dynamic-fixator group provided little gain in the mean motion of the wrist at the time of the removal of the fixator or at the one, six, or twelve-month evaluation. The static-fixator group had greater flexion of the wrist and radial deviation at the early and late follow-up examinations, while the dynamic-fixator group demonstrated only greater ulnar deviation one month after the fixator had been removed. Motion of the wrist in the dynamic-fixator group resulted in a statistically significant loss of radial length compared with that in the static-fixator group (four millimeters compared with one millimeter, p < 0.001). Complications were more frequent in the dynamic-fixator group. As evaluated with a modification of the scoring system of Gartland and Werley, 92 percent of the results at one year were excellent or good in the static-fixator group and 76 percent, in the dynamic-fixator group. The results of this study cannot support the concept of early mobilization with a dynamic external fixator for the treatment of unstable fractures of the distal part of the radius.

PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

Somatic activating mutations in the phosphatidylinositol‐3‐kinase/AKT/mTOR pathway underlie heterogeneous segmental overgrowth phenotypes. Because of the extreme differences among patients, we sought to characterize the phenotypic spectrum associated with different genotypes and mutation burdens, including a better understanding of associated complications and natural history. Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO), Hemihyperplasia Multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal (CLOVES) syndrome, macrodactyly, Fibroadipose Infiltrating Lipomatosis, and the related megalencephaly syndromes, Megalencephaly‐Capillary Malformation (MCAP or M‐CM) and Dysplastic Megalencephaly (DMEG). A workshop was convened at the National Institutes of Health (NIH) to discuss and develop a consensus document regarding diagnosis and treatment of patients with PIK3CA‐associated somatic overgrowth disorders. Participants in the workshop included a group of researchers from several institutions who have been studying these disorders and have published their findings, as well as representatives from patient‐advocacy and support groups. The umbrella term of “PIK3CA‐Related Overgrowth Spectrum (PROS)” was agreed upon to encompass both the known and emerging clinical entities associated with somatic PIK3CA mutations including, macrodactyly, FAO, HHML, CLOVES, and related megalencephaly conditions. Key clinical diagnostic features and criteria for testing were proposed, and testing approaches summarized. Preliminary recommendations for a uniform approach to assessment of overgrowth and molecular diagnostic testing were determined. Future areas to address include the surgical management of overgrowth tissue and vascular anomalies, the optimal approach to thrombosis risk, and the testing of potential pharmacologic therapies.

Neonatal brachial plexus palsy. Outcome of absent biceps function at three months of age.

BACKGROUND An important prognostic factor in neonatal brachial plexus palsy is the time interval to biceps muscle recovery. Although the natural history is not clear, biceps muscle recovery after more than three months of age has been used to predict poor long-term shoulder function. The absence of biceps muscle function at three months of age has been adopted as an indication for early brachial plexus microsurgery, in an attempt to improve recovery. To provide a benchmark for outcome comparison, the long-term outcome of patients with absent biceps muscle function at three months of age was studied. METHODS Between 1980 and 1992, 170 patients with neonatal brachial plexus palsy were entered into a prospective study in which details of the birth and serial clinical examinations were recorded. Patients were grouped according to the level of injury and the time interval to biceps muscle recovery. Twenty-nine patients were observed to have absent biceps muscle function at three months of age. Twenty-eight of those patients were available for long-term followup at a mean age of eleven years and one month. At the time of follow-up, patients answered a questionnaire and underwent manual muscle strength testing, sensory evaluation, and grading of their shoulder function according to Gilberts modification of the Mallet score, in which the function was graded as II, III, or IV with class I (no function) and V (normal) eliminated. The level of injury and the time that biceps muscle function returned were compared with the final outcomes. RESULTS The level of injury was C5-C6 in thirteen (46%) of our twenty-eight patients with absent biceps muscle function at three months of age, C5-C7 in five (18%), and pan-plexus (C5-T1) in ten (36%). Biceps contraction was observed by six months of age in twenty patients (71%), including all thirteen patients with a C5-C6 level of injury. Twenty-two patients did not have surgery on the brachial plexus, but nine of those patients had subsequent orthopaedic procedures. At the time of follow-up, twenty-seven of the twenty-eight patients had at least antigravity biceps muscle function. Patients who regained biceps muscle function between three and six months of age had better scores for abduction (p = 0.04) and for hand-to-neck (p = 0.05) and hand-to-back (p < 0.001) function than did patients who regained biceps muscle function after six months of age. Patients with a C5-C6 lesion had better scores for external rotation (p = 0.04) and for hand-to-neck (p = 0.05), hand-to-mouth (p < 0.01), and hand-to-back (p < 0.001) function than did patients with a pan-plexus lesion. Twelve (55%) of the twenty-two patients who did not have brachial plexus surgery had a class-IV shoulder (good function) according to the modified Mallet score. Of the twelve patients with a C5-C6 level of injury who did not have brachial plexus surgery, eight had a class-IV shoulder. CONCLUSIONS This study indicated associations between prolonged neurological recovery and a more extensive level of injury and worse long-term shoulder function. Patients with a C5-C6 injury and absent biceps muscle function at three months of age often have good long-term shoulder function without brachial plexus surgery.

Posterior shoulder dislocation in infants with neonatal brachial plexus palsy

BACKGROUND Glenoid dysplasia and posterior shoulder subluxation with resultant shoulder stiffness is a well-recognized complication in infants with neonatal brachial plexus palsy. It is generally considered to be the result of a slowly progressive glenohumeral deformation secondary to muscle imbalance, physeal trauma, or both. Recent publications about infantile posterior shoulder dislocation have suggested that the onset of dysplasia occurs at an earlier age than has been previously recognized. The prevalence of early dislocation in infants with this disorder has not been previously reported, to our knowledge. METHODS We studied 134 consecutive infants with neonatal brachial plexus palsy who were seen at our institution over a period of two years. All infants were examined at monthly intervals to assess neurological recovery and the status of the upper extremity until recovery occurred or a treatment plan was established. The type of brachial plexus involvement was classified. Specific clinical signs associated with subluxation and dislocation were recorded. These included asymmetry of skin folds of the axilla or the proximal aspect of the arm, apparent shortening of the humeral segment, a palpable asymmetric fullness in the posterior region of the shoulder, or a palpable click during shoulder manipulation. The infants who were identified as having these clinical signs were evaluated with ultrasonographic imaging studies. RESULTS Eleven (8%) of the 134 infants had a posterior shoulder dislocation. The mean age at the time of diagnosis was six months (range, three to ten months). There was no correlation between the occurrence of dislocation and the type of initial neurological deficit. A rapid loss of passive external rotation between monthly examinations indicated a posterior shoulder dislocation. CONCLUSIONS Posterior shoulder dislocation can occur earlier (before the age of one year) and more rapidly in infants with neonatal brachial plexus palsy than has been appreciated previously. As with developmental dysplasia of the hip, a high index of suspicion, recognition of clinical signs, and the use of ultrasonography will allow the diagnosis to be established. Following early diagnosis, attention should be focused on improving the stability and congruency of the shoulder joint.

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

Macrodactyly is a discrete congenital anomaly consisting of enlargement of all tissues localized to the terminal portions of a limb, typically within a ‘nerve territory’. The classic terminology for this condition is ‘lipofibromatous hamartoma of nerve’ or Type I macrodactyly. The peripheral nerve, itself, is enlarged both in circumference and in length. It is not related to neurofibromatosis (NF1), nor is it associated with vascular malformations, such as in the recently reported CLOVES syndrome. The specific nerve pathophysiology in this form of macrodactyly has not been well described and a genetic etiology for this specific form of enlargement is unknown. To identify the genetic cause of macrodactyly, we used whole-exome sequencing to identify somatic mutations present in the affected nerve of a single patient. We confirmed a novel mutation in PIK3CA (R115P) present in the patients affected nerve tissue but not in blood DNA. Sequencing PIK3CA exons identified gain-of-function mutations (E542K, H1047L or H1047R) in the affected tissue of five additional unrelated patients; mutations were absent in blood DNA available from three patients. Immunocytochemistry confirmed AKT activation in cultured cells from the nerve of a macrodactyly patient. Additionally, we found that the most abnormal structure within the involved nerve in a macrodactylous digit is the perineurium, with additional secondary effects on the axon number and size. Thus, isolated congenital macrodactyly is caused by somatic activation of the PI3K/AKT cell-signaling pathway and is genetically and biochemically related to other overgrowth syndromes.

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.

Intraobserver and interobserver reliability of two ultrasound measures of humeral head position in infants with neonatal brachial plexus palsy.

BACKGROUND Ultrasonographic evaluation of the hip in infants is considered both reliable and reproducible in the diagnosis of developmental dysplasia of the hip. Ultrasonographic evaluation of the shoulder in infants has been reported as a valuable diagnostic aid in dysplastic development following neonatal brachial plexus palsy. To our knowledge, there has been no study of the intraobserver reproducibility and interobserver reliability of sonography of the shoulder in infants with and without suspected posterior shoulder dislocation. METHODS Two identical but randomly ordered sets of the same deidentified sonographic images of shoulders in infants were given to radiologists, pediatric orthopaedists and orthopaedic residents, and fellows with varying degrees of experience in the evaluation of shoulder pathology in infants, who measured the position of the humeral head relative to the axis of the scapula. Intraobserver reproducibility and interobserver reliability of the measurements were assessed. RESULTS For the position of the humeral head with respect to the glenoid in both normal and abnormal conditions, the Pearson correlation coefficient for intraobserver reproducibility was 0.91 and the intraclass correlation coefficient for interobserver reliability was 0.875. For estimating the percentage of the humeral head posterior to the axis of the scapula, the Pearson correlation was 0.85 and the intraclass correlation coefficient was 0.77. CONCLUSIONS Ultrasonographic examination of the shoulder in infants to assess for the position of the humeral head with respect to the scapula showed high intraobserver reproducibility and interobserver reliability. It is recommended as a reliable technique for evaluating shoulder position in infants with neonatal brachial plexus palsy.

OnabotulinumtoxinA Injection as an Adjunct in the Treatment of Posterior Shoulder Subluxation in Neonatal Brachial Plexus Palsy

BACKGROUND Botulinum toxin A is used to treat contractures in children with spasticity by temporarily interfering with neural transmission at the motor end plate. In infants with brachial plexus palsy, posterior shoulder subluxation and dislocation are the result of muscle imbalance, in which neurologic recovery is evolving, and spasticity is not a deforming force. We postulated that temporary weakening of the shoulder internal rotator muscles with botulinum toxin A would facilitate reduction of the glenohumeral joint in such infants with early posterior shoulder subluxation or dislocation. METHODS Thirty-five infants with posterior subluxation or dislocation of the shoulder due to brachial plexus palsy were treated with botulinum toxin A between January 1999 and December 2006, and were followed for a minimum period of one year. Records were reviewed for the severity of the palsy, age at time of treatment, recurrence of subluxation or dislocation, and the subsequent need for further treatment to reduce the glenohumeral joint. RESULTS The average age at the time of shoulder reduction and botulinum toxin-A injection was 5.7 months. Six patients had a second injection. Reduction of the shoulder was maintained in twenty-four (69%) of the thirty-five patients. There were no complications related to the use of botulinum toxin A. CONCLUSIONS Although there may be specific risks associated with its use, botulinum toxin-A injection into the internal rotator muscles is a useful adjunct to the treatment of early posterior subluxation or dislocation of the shoulder in infants with neonatal brachial plexus palsy, and may help to avoid the need for open surgical procedures to restore or maintain shoulder reduction.

Long-term follow-up of progressive macrodystrophia lipomatosa : A report of two cases

Macrodystrophia lipomatosa is a rare form of congenital localized gigantism that is characterized by slowly progressive overgrowth of the mesenchymal elements, especially the fibroadipose tissue, in a limb1-3. The abnormal tissue is often found along the median nerve in the hand and the plantar nerves in the foot4,5. No causal link between hamartoma of a nerve and soft-tissue enlargement has been established, and evidence of nerve involvement is controversial. We report on two cases of macrodystrophia lipomatosa that caused progressive proximal enlargement along the posterior aspect of the left lower limb in one patient and along the anterior portion of the left upper limb in another. Our search of the literature revealed only one other previously reported case of such progressive enlargement, which was in a purely preaxial distribution6. Both of our patients were informed that information regarding their cases would be submitted for publication. Case 1. A four-month-old girl presented to the clinic with enlarged second and third toes on the left foot. The condition had been present at birth. The mothers pregnancy had been full term and unremarkable. There was no family history of limb malformations or neurofibromatosis. The patient was otherwise healthy and had a normal examination except for very enlarged second and third toes. Radiographs revealed increased soft-tissue density and enlargement of the second and third phalanges and metatarsals (Fig. 1-A). Resection of the second and third rays was performed when the patient was six months of age. Histologically, the resected specimens were enlarged but were otherwise normal in structure and had excessive amounts of normal-appearing adipose tissue. Postoperatively, the foot was noted to be similar in width and height to the contralateral, uninvolved foot. By three months after the operation, the mother noted enlargement …

Carpal wedge osteotomy for the arthrogrypotic wrist

The upper limbs of the child with the amyoplasia form of arthrogryposis are typically internally rotated at the shoulders, extended at the elbows, and flexed and deviated ulnarly at the wrists. This position results in an obligatory crossed-limb pattern of bimanual use, as neither hand is sufficiently strong or agile to function independently. A change in the position of deformity to one that allows the palms to come together without crossing the arms, and also allows access to desktops and keyboards, is a reasonable goal for children with this condition. A severe internal rotation deformity at the shoulder can be corrected with external rotation osteotomy, and elbow extension contractures can be released with soft-tissue procedures to increase the passive range of motion. However, most attempts to improve wrist position have been disappointing because they have resulted in the loss of any limited motion that might be present. This paper describes a technique of resection of a portion of the carpus that improves position and retains motion because it spares the radiocarpal joint.