Elbow Release and Tricepsplasty in Arthrogrypotic Patients: A Long-Term Follow-Up Study.

PURPOSE: Obtaining elbow flexion to improve hand-to-mouth reach capability is an essential component of achieving functional independence in pediatric patients with arthrogryposis. This study analyzed the long-term outcomes of elbow release and tricepsplasty in a series of children with arthrogryposis at a tertiary institution. METHODS: Medical records of patients with arthrogryposis who underwent elbow release and tricepsplasty from 1993 to 2015, with at least 2 years of follow-up, were reviewed. Collected measures included preoperative elbow passive range of motion (ROM), postoperative elbow passive and active ROM, shoulder passive and active ROM, and Pediatric Outcomes Data Collection Instrument (PODCI) scores. Our analysis compared pre- and postoperative follow-up of elbow passive ROM and reviewed PODCI scores with age-adjusted normative values. RESULTS: Seventeen patients (4 female and 13 male) with 24 affected upper extremities (10 left elbow and 14 right elbow) were included in final analysis. Age at final follow-up averaged 11 years (range, 4-20 years), mean age at surgery was 2.7 years (range, 9.6 months-9.3 years) with mean follow-up by extremity at 8.3 years (range, 2-18 years). Differences in pre- and post-operative passive elbow ROM were significant for extension, flexion, and total arc of motion. Most parent and self-reported PODCI scores were less than the age-adjusted normal population, except in the domains of Comfort and Pain and Happiness. CONCLUSION: Long-term follow-up of elbow release and tricepsplasty in patients with arthrogryposis indicates both increased and sustained elbow flexion and arc of motion. Although PODCI scores were lower compared with the age-adjusted norm, pediatric patients with arthrogryposis were just as happy and had no more discomfort than their unaffected age-adjusted norms. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Effect of Distal Ulna Osteochondroma Excision and Distal Ulnar Tether Release on Forearm Deformity in Preadolescent Patients With Multiple Hereditary Exostosis.

BACKGROUND: Multiple hereditary exostosis is a benign condition that can lead to significant forearm deformity secondary to physeal disturbances. As the child grows, the deformity can worsen as relative shortening of the ulna causes tethering, which may lead to increased radial articular angle, carpal slippage, and radial bowing, over time this tethering can also result in radial head subluxation or frank dislocation. Worsening of forearm deformities often require corrective reconstructive osteotomies to improve anatomic alignment and function. The purpose of this study is to evaluate the effectiveness of osteochondroma excision and distal ulnar tether release on clinical function, radiographic anatomic forearm alignment, and need for future corrective osteotomies. METHODS: The authors reviewed a retrospective cohort of preadolescent patients who underwent distal ulna osteochondroma resection and ulnar tethering release (triangular fibrocartilage complex). Patients were invited back and prospectively evaluated for postoperative range of motion, pain scores, self-reported and parent-reported Disabilities of the Arm, Shoulder, and Hand (DASH) and Pediatric Outcomes Data Collection Instrument (PODCI) scores. In addition, preoperative and final postsurgical follow-up forearm x-rays were reviewed. RESULTS: A total of 6 patients and 7 forearms were included in our study with an average age of 7.9 years at time of surgery. The average final follow-up was 7.4 years. With respect to range of motion, only passive radial deviation demonstrated improvement -20 to 14 degrees (P=0.01). Although there was not statistically significant change in radial articular angle, this study did find an improvement in carpal slip 75.7% to 53.8% (P=0.03). At final follow-up DASH score was 5.71 (σ=5.35), PODCI Global Function score was 95.2 (σ=5.81), and PODCI-Happiness score 98 (σ=2.74). Visual analogue scale appearance and visual analogue scale pain assessment were 1.67 (σ=1.21) and 1.00 (σ=1.26), respectively, at final follow-up. No patient in the cohort developed a radial head dislocation. Only one of 7 forearms required a corrective osteotomy within the study's follow-up time period. CONCLUSIONS: Surgical excision of forearm osteochondromas with ulnar tether release in the preadolescent patients improves carpal slip, may help to prevent subsequent surgical reconstruction and provides satisfactory clinical results at an average 7-year follow-up. LEVEL OF EVIDENCE: Level III-therapeutic study.

Case series: Amniotic band sequence with craniofacial abnormalities.

BACKGROUND: To objectively describe craniofacial, visual, and neurological features associated with amniotic band syndrome (ABS) and discuss likely associated multifactorial etiology. METHODS: A retrospective review of patients identified with ABS and concomitant limb involvement and craniofacial features was conducted. The following data were collected from the patients' medical records: demographic information, past medical history including birth history, surgical history, previous clinic visits/physical exams, description of craniofacial features and ABS, family history, any noted obstetric complications, visceral features, visual features, craniofacial features, intracranial features, neurological symptoms, developmental features, diagnostic tests (including radiographs, IQ testing, EEG findings, chromosomes), photographs, and treatment history. RESULTS: Seven patients were included in the final cohort, all of whom had a cleft lip with six having both cleft lip and palate. Other craniofacial abnormalities seen were facial clefts which were vertical oblique in nature, tear duct involvement, cranial deformities that required surgical correction with cranial reconstruction, recorded hypertelorism with vision and gaze abnormalities, coloboma, lagopthalmos and optic never dysplasia. CONCLUSIONS: This case series presents seven children with craniofacial involvement associated with amniotic band sequence and attempts to categorize the salient dysmorphology and neurocognitive development. Major craniofacial anomalies in patients with ABS is a rare clinical finding that cannot be completely explained on the basis of premature amniotic layer disruption alone. This study supports that the dysmorphology seen in cases of ABS with craniofacial involvement is complex and most likely multifactorial. LEVEL OF EVIDENCE: IV Case Series.

Outcomes After Primary Repair and Staged Reconstruction of Zone I and II Flexor Tendon Injuries in Children.

BACKGROUND: Delayed diagnosis of flexor tendon injury in children is common, and consequent flexor sheath scarring may necessitate a 2-stage reconstruction. Previous studies show variable outcomes after 2-stage flexor reconstruction in children, especially those below 6 years old. We evaluated functional and subjective outcomes of primary repair and staged reconstruction of zone I and II tendon injuries in children under 6 years of age. METHODS: A retrospective chart review identified 12 digits in 10 patients who had undergone surgical treatment of a zone I or II flexor tendon injury. Seven digits had a primary repair and 5 had a 2-stage reconstruction. Time delay from injury to surgery for primary repairs averaged 18 weeks and for 2-stage reconstruction averaged 24 weeks. Outcomes included total active motion, tip pinch and grip strength, sensation, and the Pediatric Outcomes Data Collection Instrument (PODCI). RESULTS: Average follow-up was 8 years. At final follow-up, mean total active and passive motion of the involved digit was similar between the primary reconstruction and staged groups, and 58% had a "good" or "excellent" American Society for Surgery of the Hand; total active motion (ASSH TAM) result (71% in the primary repair group, 40% in the 2-stage reconstruction group). All regained grip and pinch strength equal to the contralateral hand. The average PODCI Upper Extremity score was 99 (99 in the primary repair group, 98 in the 2-stage reconstruction group) and PODCI Global Function score was 94 (97 in the primary repair group, 91 in the 2-stage reconstruction group). No complications occurred. CONCLUSIONS: Our small study demonstrates that both primary repair and 2-stage flexor tendon reconstruction have acceptable long-term functional and subjective outcomes in children below 6 years old, although staged reconstruction had a lower overall ASSH TAM score and subcategorical PODCI scores. Although staged reconstruction has acceptable outcomes in this population, prompt primary repair of flexor tendon injuries in children should always be attempted. LEVEL OF EVIDENCE: Level 4-therapeutic.

Symbrachydactyly: Finger nubbins are not always amniotic band disruption sequence.

Although congenital hand anomalies associated with finger nubbins may be produced by amniotic band disruption sequence (ABDS), symbrachydactyly should be considered in the differential diagnosis. ABDS usually affects more than one limb but symbrachydactyly largely is limited to one upper extremity, and has five distinct clinical presentations: short-fingered, atypical cleft, monodactylous, peromelic, and a forearm proximal transverse deficiency. This article discusses the diagnosis of symbrachydactyly compared with ABDS and outlines plans for managing patients with symbrachydactyly.

"On-Top Plasty" for Radial Polydactyly Reconstruction.

PURPOSE: To introduce the "on-top plasty" technique and report our long-term outcomes. METHODS: We evaluated 5 thumbs in 5 patients who underwent radial polydactyly reconstruction using the "on-top plasty" technique between 1998 and 2003. This technique was used when it was felt that neither thumb possessed adequate proximal and distal structures to provide a functional and aesthetically pleasing thumb. Our study group included 1 Flatt type III and 4 Flatt type VII thumbs. The average age at time of surgery was 1.4 years and at final follow-up was 13.5 years. Subjective patient evaluation, objective outcomes values, and validated patient-oriented outcome measures were obtained. RESULTS: There was no soft tissue loss and union was achieved in all thumbs with no further surgery required in any thumb. Mean flexion-extension arc for the metacarpophalangeal joint was 60° (range, 10° extension to 70° flexion) and at the interphalangeal joint was 19° (range, 25° extension to 35° flexion). Mean percentage of age-matched norms for lateral, tripod, and tip pinch were 47.0%, 45.9%, and 47.8%, respectively. Mean grip strength was 54.2% of age-matched norm. The mean Pediatric Quality of Life Inventory (PedsQL) score for parent questionnaires was 89.0 and for teen/child questionnaires was 89.1. The Disabilities of the Arm, Shoulder, and Hand (DASH) questionnaire revealed a mean score of 4.3. CONCLUSIONS: For patients with radial polydactyly in which neither thumb possesses adequate distal and proximal components, the on-top plasty is a reliable method of polydactyly reconstruction with durable results at longer than 10 years' follow-up. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic V.

Long-term Follow-up of Neonatal Brachial Plexopathy: Psychological and Physical Function in Adolescents and Young Adults.

PURPOSE: The prevalence of neonatal brachial plexus palsy (NBPP) has been increasing since the early 1980s. No known studies have examined long-term psychological health and quality of life (QOL) in young adults. The purpose of this study was to investigate the psychosocial and intellectual aspects of NBPP during adolescence into young adulthood. METHODS: A total of 31 patients were enrolled in the adolescent group (16 to 18 y) and 25 in the young adult group (23 to 28 y). Clinical assessment included functional ability, range of motion and strength, weight and body mass index, and education level. Patients were administered measures of psychiatric symptomatology, self-concept, QOL, and cognitive function. RESULTS: Narakas injury level for the adolescent group included 11 level I, 6 level II, 8 level III, and 6 level IV. The young adult group had 10 level I, 2 level II, 9 level III, and 4 level IV. The degree of physical impairment determined by the Modified Mallet Classification showed persistent impairment in both groups. The average DASH scores were higher than the normal range for the adolescent and young adult groups. Forty-five percent of the adolescents and 68% of the young adults were either overweight or obese. All received high school diplomas with 20 of the young adults pursuing higher education.Scores on measures of psychiatric symptomatology and self-concept showed that both groups fell within the normal range. QOL for both groups was also within the normal range. All participants scored average to above average on the cognitive assessment. All measurements were patient reported. CONCLUSIONS: Patients with NBPP can adapt and participate in most activities. This patient sample demonstrated persistent functional limitations and a higher rate of comorbid obesity. However, these patients function psychologically and cognitively within the normal range and many have pursued higher education. LEVEL OF EVIDENCE: Level IV.

A case of familial syndactyly associated with eye and dental abnormalities.

Syndactyly occurs in 1 in 2,000 live births and is more common in white children. This article describes a patient with syndactyly and additional abnormalities indicating oculodentodigital dysplasia.

Obesity in children with brachial plexus birth palsy.

Fetal macrosomia is associated with a 14-fold increased risk of brachial plexus birth palsy (BPBP), and is a predictor of childhood obesity. The purpose of this study was to identify the relationships between BPBP, fetal macrosomia, and childhood obesity. We retrospectively reviewed 214 children with BPBP. The average age was 8 years and 53% had a Narakas 1 grade BPBP. Overall, 49% of children were normal weight, 22% overweight, and 29% obese. Of the children with a history of fetal macrosomia, 41% were obese; a statistically significant difference. Overall quality of life scores, however, were not correlated with obesity.

Soft tissue release and bilobed flap for severe radial longitudinal deficiency.

PURPOSE: To report the hand position, range of motion, functional results, and radiographic outcomes associated with treating radial longitudinal deficiency with release of constricting or deforming soft tissue and resurfacing of the radial skin deficiency with a bilobed flap. METHODS: We recalled and reviewed patients with at least a 3-year follow-up who had undergone soft-tissue release and coverage with a bilobed flap. The study group consisted of 16 patients and 18 wrists. All patients underwent follow-up examination and radiographs. Outcome measures using Pediatric Outcomes Data Collection Instrument (PODCI), Disabilities of the Arm, Shoulder, and Hand (DASH), and visual analogue scale (VAS) scores were recorded. RESULTS: At a mean of 9.2 years follow-up, the average final resting wrist radial deviation angle was 64° compared with 88° preoperatively. The average active wrist flexion-extension arc was 73°. Average DASH score was 27 (range, 5-54). PODCI global was 88 (range, 75-97), PODCI happiness was 86 (range, 70-100), and VAS overall satisfaction (range, 0-10) was 1.2 (range, 0-8). At final follow-up, no physeal growth arrests were noted on radiographs, and no patients to date have required ulnocarpal arthrodesis. CONCLUSIONS: Soft-tissue release and coverage with a bilobed flap should be considered in the treatment algorithm for patients with radial longitudinal deficiency. Outcome measures show that these patients maintain useful active motion, and along with their parents, are satisfied with both the appearance and function. Some recurrence of radial deviation was noted, which was similar to results previously reported following centralization/radialization procedures, although with a lower inherent risk of both physeal injury to the ulna and stiffness. In addition, potential future procedures are not compromised by this surgical approach. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Long-term outcomes following radial polydactyly reconstruction.

PURPOSE: To report long-term outcomes (> 10 y) after radial polydactyly reconstruction. METHODS: We evaluated 43 surgically reconstructed thumbs in 41 patients with radial polydactyly whom we had observed for more than 10 years. The study group included 12 Flatt type II, 8 type III, 17 type IV, and 6 type V. The average age of surgery was 1 year and mean follow-up was 17 years. Objective outcome values and validated patient-oriented outcome evaluations were obtained. RESULTS: No early postsurgical complications were encountered. Eight patients had 10 revision procedures at an average of 8 years after the initial procedure. Five patients had interphalangeal joint arthrodesis, all for angulation with accompanying pain. The average Tada score was 4.1. Lateral, tripod, and tip pinch strengths were 96%, 86%, and 92%, respectively, of the unaffected side. As a group, the treated thumbs had significantly weaker tip and tripod pinch strengths than the untreated thumbs. The average Disabilities of the Arm, Shoulder, and Hand score was 4.5 and the average Pediatric Quality of Life Inventory score was 87 when administered to both the patient and the parent. CONCLUSIONS: Long-term results after surgical reconstruction for radial polydactyly were excellent but the revision rate trended upward over time despite maintenance of favorable scores on the objective outcome measures used. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Incidence and prognosis of neonatal brachial plexus palsy with and without clavicle fractures.

OBJECTIVE: To report the incidence of neonatal brachial plexus palsy with and without ipsilateral clavicle fracture in a population of newborns and to compare the prognosis between these subgroups. METHODS: This was a retrospective review of 3,739 clavicle fractures and 1,291 brachial plexus palsies in neonates over a 24-year period from a geographically defined health care system with reference to county-wide population data. RESULTS: A referral clinic for children with brachial plexus palsies evaluated 1,383 neonates, of whom 320 also had ipsilateral clavicular fracture. As a result of referral patterns within the region, it is likely that this represents nearly all infants from the area with persistent brachial plexus injury after 2 months of age. Among the children evaluated without concomitant clavicular fracture, 72% resolved spontaneously (154/214); among those with concomitant clavicular fracture, 74% healed spontaneously (55/74). Limiting the analysis to neonates delivered at Parkland Memorial Hospital and assuming that those neonates with a discharge diagnosis of brachial plexus injury with or without clavicular fracture who did not present to the referral brachial plexus injury clinic had complete resolution, 94.4% without clavicular fracture resolved and 98.1% with clavicular fracture resolved (P=.005). CONCLUSIONS: The risk of persistent neurologic deficit from a birth-related brachial plexus palsy is lower than what has been reported, and the presence of a clavicle fracture may improve the likelihood of recovery. LEVEL OF EVIDENCE: III.

Ulnar polydactyly: long-term outcomes and cost-effectiveness of surgical clip application in the newborn.

BACKGROUND: Postaxial polydactyly type B (PAPD-B) refers to the nonfunctional, floppy extra digit on the ulnar border of the hand. Suture ligation is applied in the newborn unit if the base is narrow or pedunculated. However, wart-like scars, residual bumps, or neuromas are frequent complications. Wider-based extra digits are treated at a later age by surgical excision under general anesthesia. Surgical clip application expands the indications for PAPD treatment in the newborn unit or outpatient setting with lesser incidences of complications. DESIGN: A retrospective review identified 231 hands with PAPD-B in 132 newborns treated with surgical clips between January 1, 1996, and November 30, 2010, having a minimum of 2 years of follow-up. Medical records were queried for complications, revision procedures, and parent satisfaction. A relative cost survey compares the costs of surgical clips to surgery. CONCLUSIONS: In all, 16 extremities in 9 patients (7%) required surgical scar revision. No wound complications were noted.

Long-term outcome following carpal wedge osteotomy in the arthrogrypotic patient.

BACKGROUND: Wrist flexion and ulnar deviation deformity is a common presentation in children with amyoplasia congenita. Multiple surgical procedures have been reported to correct the deformity to enhance functional independence and improve quality of life. We performed a retrospective review to detail our long-term results with carpal wedge osteotomy in these patients. METHODS: Medical records of all patients with the amyoplasia form of arthrogryposis who underwent carpal wedge osteotomy between 1994 and 2008 were reviewed. Patients with a follow-up of two years or less were excluded. Preoperative and postoperative resting position and range of motion of the wrist were recorded. Interviews and questionnaires were completed to assess the mean overall satisfaction level of the parent or guardian with the outcome of surgery, function, and task completion with use of parent-guardian surveys, the Manual Ability Classification System, and the ABILHAND-Kids measure of manual ability. RESULTS: Seventy-five wrists in forty-six patients who met the inclusion criteria were reviewed. The average age of the patients at the time of surgery was 4.3 years (range, nine months to eighteen years; median, 2.7 years). The average duration of follow-up was 5.7 years (range, two to 10.3 years; median, 5.3 years). The average resting position of the wrist postoperatively (11° of flexion) was significantly different from that measured preoperatively (55° of flexion) (p < 0.001). The arc of wrist motion measured preoperatively (32°) did not differ significantly from that measured postoperatively (22°) (p = 0.4903). The location of the motion arc was significantly improved to a more functional position. The average active extension of the wrist changed from -37° of extension preoperatively to -11° of extension postoperatively (p < 0.001). Active wrist flexion also significantly changed from 69° preoperatively to 33° postoperatively (p < 0.001). Parent-guardian surveys indicated that the mean overall satisfaction score after surgery was 9.1 of 10 possible points and that the mean ranking for task completion in activities of daily living was 4 (easier following surgery). CONCLUSIONS: Long-term outcomes reveal that surgical correction of wrist flexion posture in children with amyoplasia congenita results in improvement that is sustained over time. The surveys and questionnaires completed by parents or guardians indicated that they were satisfied with the results of the operation.

Volar ligament release and distal radial dome osteotomy for the correction of Madelung deformity: long-term follow-up.

BACKGROUND: Madelung deformity is a disorder of growth of the distal aspect of the radius that is usually recognized in late adolescence near skeletal maturity. It results in a characteristic wrist deformity, decreased wrist motion, and wrist pain. The purpose of this study was to evaluate long-term results in patients treated by volar ligament release and distal radial dome osteotomy for Madelung deformity. METHODS: Patients who had undergone volar ligament release and dome osteotomy for Madelung deformity at our institution from 1990 to 2002 and who were the subjects of a previous report on this treatment were contacted for clinical and radiographic evaluation at mid-term to long-term follow-up. Forearm and wrist motion was evaluated. Posteroanterior and lateral radiographs of both forearms were assessed for radial inclination, lunate subsidence, and arthritis changes. A Disabilities of the Arm, Shoulder and Hand (DASH) survey was completed. RESULTS: Twenty-seven patients underwent volar ligament release and distal radial dome osteotomy. Eight patients were either lost to follow-up or were unable to return for follow-up. Nineteen patients with thirty-one operatively treated wrists were available for follow-up. After further review, eighteen patients and twenty-six wrists were included in the study. The average age at the time of follow-up was twenty-five years (range, nineteen to thirty-one years), with an average length of follow-up of eleven years (range, seven to fourteen years). There was no change in radial inclination or in wrist motion between the immediate postoperative and long-term follow-up evaluations. There was a positive correlation between the amount of deformity correction based on more severe preoperative parameters and an increased arthritic grade at the time of follow-up. There was positive correlation between an increased DASH score and arthritis grade as well as a correlation between whole bone deformity and increased arthritis grade and DASH score. CONCLUSIONS: Volar ligament release and distal radial dome osteotomy for Madelung deformity provides lasting correction of the deformity. Long-term follow-up shows maintenance of original radiographic correction with good to excellent functional outcome. Patients with radiographic evidence of more severe disease preoperatively and the whole bone variety of Madelung deformity have poorer radiographic outcomes and trend toward poorer functional outcomes.

Type A ulnar polydactyly of the hand: a classification system and clinical series.

PURPOSE: To propose a classification system for type A ulnar polydactyly based on radiographic findings and characterize the demographic features of patients with these deformities. METHODS: We identified 49 patients with type A ulnar polydactyly of the hand who were seen in our institution over 20 years. Patients' medical records and radiographs were retrospectively reviewed and used to distinguish morphological subtypes. RESULTS: Ninety-six percent of the deformities (64/67) were allocated to 1 of the 5 subgroups of our suggested classification, and the type that originated from the metacarpophalangeal joint was the most common. Sixty-nine percent of patients in our series (34/49) had either bilateral type A or a contralateral type B ulnar polydactyly, and 63% (31/49) had ulnar polydactyly of one or both feet. Twenty-four percent of patients (12/49) had associated syndromes or congenital anomalies involving areas other than the hand or foot. The most common syndrome associated with type A ulnar polydactyly was chondroectodermal dysplasia (n = 3). Sixty-five percent of the patients (32/49) were Caucasian, 20% were Hispanic (10/49), 12% were African American (6/49), and one was Asian. The percentage of African Americans in our series was similar to that in the general patient population seen in our institution. CONCLUSIONS: The majority of type A ulnar polydactyly can be classified into 1 of 5 morphological subtypes that have potential clinical relevance regarding surgical treatment. In patients with type A ulnar polydactyly, contralateral hand and foot polydactyly is frequent. Associated congenital anomalies and syndromes can also be present.

Epiphyseal osteochondromas of the upper limb: a report of 7 cases.

BACKGROUND: Originally described as osteochondromatous lesions arising from the tarsal bones, osteochondromas arising from the epiphysis or carpal/tarsal bones are less common than those arising from the metaphysis. Histologically, all osteochondromas are indistinguishable regardless of the location from which they arise. Few case reports and case series exist describing these lesions in the upper limb. METHODS: We review 7 cases of osteochondromas arising from epiphyses and ossicles in the upper limb treated at 3 institutions. Patients were followed for an average of 5.7 years. The average patient age at the presentation was 7.8 years. RESULTS: We identified 25 lesions: 5 distal radial epiphyseal, 3 distal radial metaphyseal, 4 scaphoid, 4 lunate, 4 trapezial, 2 accessory ossicles adjacent to the trapezium, 2 trapezoid, and 1 metacarpal lesion. Three patients presented with pain, 5 with decreased motion, and 3 with angular deformity. In 1 case, the lesion presented as an incidental finding. Four patients underwent a total of 7 procedures: 2 open biopsies, 2 distal radial epiphyseal lesion excisions, 2 revisions, and 1 excision of all lesions with a scaphoid osteotomy. CONCLUSIONS: Intra-articular and transosseous lesions are more likely to result in angular deformities and loss of motion at the joints, whereas juxtaphyseal and transphyseal lesions are more likely to result in growth disturbances and angular deformities at the physis. LEVEL OF EVIDENCE: Case series, level IV.

Oculodentodigital dysplasia: ulnar-sided syndactyly and its associated disorders.

PURPOSE: Hand surgeons are often the first specialists to see patients with oculodentodigital dysplasia (ODDD), when infants with ulnar-sided syndactyly are referred. Major associated problems include neurologic, ophthalmologic, dental, and other skeletal abnormalities. The purposes of this study were to investigate the incidence of the reported associated conditions in the families of our patients with ODDD, correlate them with the severity of syndactyly, and provide better counseling with more accurate information for these patients and families. METHODS: We reviewed medical records from Texas Scottish Rite Hospital for Children from 1980 to 2009 to identify patients with ODDD. These patients and families were invited to return for a detailed medical and family history and physical examination documenting hand, foot, eye, dental, and facial findings. RESULTS: A total of 73 pediatric patients from 47 families were diagnosed with ODDD, and 38 individuals in 31 families agreed to participate in the study. We observed bilateral syndactyly in 32 patients, with symmetric involvement in 31 of these. Abnormalities of the shape and size of the middle phalanx of the small finger were common. Ophthalmological findings were present in 31 and dental abnormalities identified in 33 patients. Neurologic findings likely related to ODDD were found in 11 patients. There appeared to be an association between the severity of syndactyly and the severity of dental and urologic findings, but not ophthalmologic or neurologic findings such as paraparesis or cognitive deficits. CONCLUSIONS: We found a 29% incidence of neurologic manifestations in patients with ODDD. In addition, associated ophthalmologic, dental, and developmental conditions are frequent and a heightened awareness will allow appropriate referrals for patients with ulnar-sided syndactyly in ODDD. TYPE OF STUDY/LEVEL OF EVIDENCE: Prognostic IV.

Onabotulinum toxinA 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.