Defining shoulder function and dysplasia in patients with longitudinal deficiencies of the upper limb.

BACKGROUND: Phenotypic differences and functional limitations in children with congenital radial and ulnar longitudinal deficiencies (RLD/ULD) are well understood for the forearm and hand. However, anatomical features of shoulder elements in these pathologies have only been scarcely reported. Moreover, shoulder function has not been assessed in this patient population. Therefore, we aimed to define radiologic features and shoulder function of these patients at a large tertiary referral center. METHODS: We prospectively enrolled all patients with RLD and ULD (minimum age: 7 years) for this study. Eighteen patients (12 RLD, 6 ULD) with a mean age of 17.9 years (range, 8.5-32.5) were evaluated using clinical examination (shoulder motion and stability), patient-reported outcome measures (Visual Analog Scale, Pediatric/Adolescent Shoulder Survey, Pediatric Outcomes Data Collection Instrument), and radiologic grading of shoulder dysplasia (including length and width discrepancy of the humerus, glenoid dysplasia in the anteroposterior and axial view [Waters classification], and scapular and acromioclavicular dysplasia assessment). Descriptive statistics and Spearman correlation analyses were performed. RESULTS: Despite five (28%) cases having anterioposterior shoulder instability and five (28%) cases with decreased motion, outcome scores indicated an overall excellent function of the shoulder girdle, with mean Visual Analog Scale of 0.3 (range, 0-5), mean Pediatric/Adolescent Shoulder Survey of 97 (range, 75-100), and mean Pediatric Outcomes Data Collection Instrument Global Functioning Scale of 93 (range, 76-100). The humerus was, on average, 15 mm shorter (range, 0-75), and metaphyseal and diaphyseal diameters both reached 94% of the contralateral side. Glenoid dysplasia was detected in nine (50%) cases, with increased retroversion evident in 10 (56%) cases. However, scapular (n = 2) and acromioclavicular (n = 1) dysplasia were rare. Based on radiographic findings, a radiologic classification system for dysplasia types IA, IB, and II was developed. CONCLUSIONS: Adolescent and adult patients with longitudinal deficiencies exhibit various mild-to-severe radiologic abnormalities around the shoulder girdle. Nevertheless, these findings did not seem to negatively affect shoulder function as the overall outcome scores were excellent.

Age-related Outcomes and Complications of Osteodistraction in the Pediatric Upper Extremity: A Large Retrospective Single-center Study of 61 Cases.

BACKGROUND: The study purpose was to assess: (1) the complication rate of osteodistraction in the pediatric upper extremity, its severity and relation to patient-specific and treatment-specific parameters, and (2) dedicated patient-reported outcome scores after these procedures. METHODS: This retrospective study analyzed a chart of patients undergoing osteodistraction of the upper limb between 2003 and 2020. Demographics, distraction-specific parameters, healing index, and any complications graded according to the Sink grading scale (grades 1 to 5) were extracted. An additional phone interview was performed to assess patient satisfaction and functionality of the elongated limb using the Quick-DASH (Disabilities of Arm, Shoulder, and Hand) score. RESULTS: This study included 61 cases from 48 individual patients. The mean age at the start of distraction was 11.5±3.6 years. The ulna was the most frequently lengthened bone, with 21 (34.4%) cases. Ninety-four complications were observed, with an average complication rate of 77.0%. Based on the Sink grading scale (1 to 5), grade 3 complications were most common (n=29; 47.5%) followed by grade 1 (n=14; 23.0%), 2 (n=14; 23.0%), and 4 (n=4; 6.6%). A significantly lower and thus better bone healing index was observed for the age category less than 10 years compared with the 14 to 18 years group (P=0.006). The average satisfaction was 4.2±1.0 points of 5. The mean Quick-DASH score was 14.1±12.5, indicating very good clinical outcomes. CONCLUSIONS: Despite the occurrence of numerous complications, high patient satisfaction and good daily life functionality of the treated limb was observed. An age of more than 14 years at the beginning of therapy had a negative prognostic effect on bone healing during distraction. Thus, osteodistraction in the upper extremity may preferably be performed less than 10 years of age because of enhanced bone regeneration. LEVEL OF EVIDENCE: Level IV-retrospective case series.

Limb Lengthening With Precice Intramedullary Lengthening Nails in Children and Adolescents.

BACKGROUND: The Precice intramedullary bone lengthening nail has been used in our department since 2013. We sought to determine the efficacy and safety of intramedullary limb lengthening with Precice nails in children and adolescents. METHODS: We retrospectively investigated patients 18 years and younger who underwent lower-limb lengthening using the Precice nail. Radiologic and clinical outcome data were obtained from a prospective database. The minimum postimplantation follow-up was 12 months. Between March 2013 and March 2020, 161 patients underwent limb lengthening with a Precice nail; 76 patients met the inclusion criteria. RESULTS: We used 84 nails in 76 patients (68 femurs and 16 tibias). Femoral nails were inserted using an antegrade approach in 57 patients and a retrograde approach in 11. The mean age at surgery was 16 years (range, 9 to 18 y). The mean lengthening was 33 mm (range, 14 to 80 mm) with additional acute axial or rotational malalignment correction in 16 segments. At the last follow-up (mean=2.1, years; range, 1 to 5 y), all regenerates had healed and all patients were mobile with full weight-bearing. Complications that necessitated surgical revision occurred in 6 patients (8%), and the desired lengthening was not achieved in 2 patients. Postlengthening malalignment occurred in 4 patients (5 tibial nails). The weight-bearing index, defined as days from surgery to full weight-bearing/cm of lengthening, was a mean of 45 days (range, 7 to 127 d/cm). CONCLUSIONS: The Precice nail facilitated reliable and safe bone lengthening and was associated with a low complication rate. Correction of additional malalignment was possible by applying intraoperative acute correction or guided growth. LEVEL OF EVIDENCE: Level IV-therapeutic study investigating the results of treatment.

Correction of post-traumatic lower-limb discrepancy with Precice intramedullary lengthening nails: a review of 34 adults with an average follow-up of 2 years.

BACKGROUND AND PURPOSE: We report results and complications of gradual bone lengthening for post-traumatic lower-limb length discrepancy (LLD) with Precice intramedullary lengthening nails in 34 adults. PATIENTS AND METHODS: Inclusion criteria were lower-limb lengthening using the Precice nail, posttraumatic etiology, age older than 18 years, and minimum follow-up of 12 months after implantation. 34 patients met the inclusion criteria. Radiological and clinical outcome data were collected. RESULTS: Precice lengthening was performed in the femur in 28 patients (21 antegrade, 7 retrograde) and in the tibia in 6. Mean patient age at time of surgery was 32 years (18-72). Mean preoperative LLD was 31 mm (20-71). Acute correction of axial or rotational malalignment was performed in 11 segments. At final follow-up (mean 2 years [1.1-3.6]), 33 of 34 nails had been removed. All lengthening sites were healed, and all patients mobilized with full weight-bearing. 14 adverse events occurred in 11 patients and were categorized as problems (n = 5), obstacles (n = 3), and complications (n = 6). Unplanned surgery was necessary in 7 patients, 3 of whom did not complete treatment with Precice. INTERPRETATION: Correction of posttraumatic LLD with or without axial malalignment using Precice intramedullary lengthening nails is associated with a low number of complications and good functional outcome. However, one-fifth of patients in this series needed further unplanned surgery for revision of obstacles or complications.

Surgical treatment of atraumatic osteochondrosis dissecans of the immature talus-Clinical results and prevalence of radiographic joint degeneration after a median follow-up of 72.5 months.

BACKGROUND: This study aimed to assess the clinical and radiographic outcomes of different surgical procedures in atraumatic osteochondrosis dissecans (OCD) of the talus in youth and adolescence. METHODS: 32 joints in 30 patients (mean age 14.7 ± 2.2 years) were evaluated. Numeric Rating Scale (NRS), Foot and Functional Index (FFI), American Orthopedic Foot and Ankle Society ankle-hindfoot score (AOFAS), Pediatric Outcome Data Collection Instrument (PODCI), and sport participation were recorded. We compared preoperative and follow-up ankle radiographs to identify specific features in the OCD morphology and any signs of joint degeneration. RESULTS: After a median follow-up period of 72.5 months the drilling group showed significantly better scores than the combined fixation and reconstruction groups (AOFAS, p = 0.024; PODCI, p = 0.003; NRS, p = 0.027). Signs of joint degeneration were observed in 50% of all ankles, especially in those treated by OCD-fixation and reconstruction. CONCLUSIONS: Advanced fixation and reconstruction procedures in unstable and non-salvageable atraumatic talar OCD resulted in inferior clinical scores and a higher prevalence of joint degeneration than drilling procedures in stable OCD in young patients.

Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome.

Proteus syndrome is a rare genetic disorder, which is characterized by progressive, segmental, or patchy overgrowth of diverse tissues of all germ layers, including the skeleton. Here, we present a 9-year-old girl with a somatic-activating mutation (c.49G > A; p.Glu17Lys) in AKT1 gene in a mosaic status typical for Proteus syndrome. She presented with hemihypertrophy of the right lower limb and a "moccasin" lesion among others. A transiliac bone biopsy was analyzed for bone histology/histomorphometry as well as bone mineralization density distribution (BMDD) and osteocyte lacunae sections (OLS) characteristics based on quantitative backscattered electron imaging. Bone histomorphometry revealed highly increased mineralizing surface (Z-score + 2.3) and mineral apposition rate (Z-score + 19.3), no osteoclasts (Z-score - 2.1), and an increased amount of primary bone in the external cortex. BMDD abnormalities included a decreased mode calcium concentration in cancellous bone (Z-score - 1.7) and an increased percentage of highly mineralized cortical bone area (Z-score + 2.4) compared to reference. OLS characteristics showed several differences compared to reference data; among them, there were the highly increased OLS-porosity, OLS-area, and OLS-perimeter on the external cortex (Z-scores + 6.8, + 4.4 and 5.4, respectively). Our findings suggest that increased bone formation reduced matrix mineralization in cancellous bone while the enhanced amount of primary bone in the external cortex increased the portion of highly mineralized cortical bone and caused OLS-characteristics abnormalities. Our results indicate further that remodeling of primary bone might be disturbed or delayed in agreement with the decreased number of osteoclasts observed in this child with Proteus syndrome.

Treatment of advanced stage osteochondrosis dissecans in the adolescent elbow using a hyaloronic acid-based scaffold: a case series of 5 patients.

INTRODUCTION: Osteochondrosis dissecans (OCD) is considered to be one of the main causes for pain, discomfort and morbidity in the pediatric elbow joint. Few treatment options, such as microfracture or autologous transplantation, of osteochondral bone grafts have been described to address advanced OCD. The aim of this retrospective case series is to present preliminary clinical and radiologic findings following advanced stage OCD repair using a novel combination of a hyaluronic acid-based scaffold with autologous iliac crest bone grafting. MATERIALS AND METHODS: Five adolescents, who underwent treatment of OCD (grade 3 or 4 according to Nelson) using a combination technique of defect debridement, transplantation of cancellous iliac crest bone and application of a HYALOFAST® membrane (Anika Therapeutics S.r.L., Italy), were re-assessed using clinical and radiologic examinations (defect diameter, depth, sclerosis, congruency, fragmentation, dissection, radiolucency, growth plate status; MRI) after a minimum of 2 years (mean, 34 months; range, 24-45) postoperatively. Dedicated outcome scores (Numeric Rating Scale [NRS], Pediatric Outcome Data Collection Instrument [PODCI], Mayo Elbow Performance Score [MEPS], and Timmerman-Andrews Score [TIMM] were collected. RESULTS: All patients reported a NRS score of 0. The mean total TIMM, MEPS and PODCI (Global Functioning Scale) scores were 189 (range 165-200), 94 (range, 70-100), and 92 (range 83-98; normative score 47; range 35-55), respectively, indicating good to excellent clinical outcomes. The radiographic analysis showed overall improvements with regard to OCD width and depth reduction (35%, - 27-100%; 52%, 4-100%), but full resolution in only 2 of 5 cases. Elbow motion improved slightly after surgery. No complications were noted. CONCLUSION: This study showed promising clinical short- to mid-term results in adolescent patients with advanced OCD using a novel surgical treatment combination. Radiographic results showed partial healing; hence, residual changes should be monitored over a longer period.

Leg lengthening and deformity correction in rare bone diseases: a multidisciplinary approach.

Congenital and acquired conditions presenting with leg length discrepancy, leg deformity or short stature are not only a challenge for paediatric orthopaedic surgeons in terms of treatment options but may also involve a number of medical specialties due to the complex clinical manifestations of the diseases. Various surgical treatment options are available for these rare genetic diseases, including bone lengthening and growth inhibition techniques for lower limb discrepancy, as well as guided growth and other surgical procedures for correction of angular deformities. Surgical techniques may be similar, but the treatment plans and specific multidisciplinary approaches may differ. The present report is focused on paediatric orthopaedic and multidisciplinary aspects of the treatment of rare bone diseases. We address the clinical presentation of these diseases, gait and surgical procedures for conditions such as achondroplasia, X­linked hypophosphatemia and osteogenesis imperfecta. We also provide a short overview of other rare bone diseases.

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

In five separate families, we identified nine individuals affected by a previously unidentified syndrome characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delays. Using homozygosity mapping, array CGH, and exome sequencing, we uncovered bi-allelic loss-of-function CDK10 mutations segregating with this disease. CDK10 is a protein kinase that partners with cyclin M to phosphorylate substrates such as ETS2 and PKN2 in order to modulate cellular growth. To validate and model the pathogenicity of these CDK10 germline mutations, we generated conditional-knockout mice. Homozygous Cdk10-knockout mice died postnatally with severe growth retardation, skeletal defects, and kidney and lung abnormalities, symptoms that partly resemble the disease's effect in humans. Fibroblasts derived from affected individuals and Cdk10-knockout mouse embryonic fibroblasts (MEFs) proliferated normally; however, Cdk10-knockout MEFs developed longer cilia. Comparative transcriptomic analysis of mutant and wild-type mouse organs revealed lipid metabolic changes consistent with growth impairment and altered ciliogenesis in the absence of CDK10. Our results document the CDK10 loss-of-function phenotype and point to a function for CDK10 in transducing signals received at the primary cilia to sustain embryonic and postnatal development.

Evaluation of radiological instability signs in the distal radioulnar joint in children and adolescents with arthroscopically-verified TFCC tears.

INTRODUCTION: Recent reports in the adult literature reported the use of standardized radiographic measurement techniques to determine distal radioulnar joint (DRUJ) instability. The aim of this study was to evaluate the efficacy and accuracy of (1) the MRI-based modified radioulnar ratio technique and (2) the pisoscaphoid (PiSca) and radioulnar (RaUl) distances in true lateral radiographs in children and adolescents with arthroscopically-verified TFCC tears. MATERIALS AND METHODS: We retrospectively assessed lateral wrist radiographs and axial MRI sequences of 18 adolescent patients (22 wrists) who had arthroscopically-confirmed TFCC tears and compared them to similar imaging of a control group of 28 healthy patients (28 wrists). Three raters assessed the images twice in a 2-week interval. Intraclass correlation coefficients (ICCs), unifactorial ANOVA, and ROC analysis were performed with regards to the different radiographic variables. RESULTS: The interrater ICCs were almost perfect for all measurements except RaUl1, which showed a substantial agreement (0.751) among the three observers. The intrarater ICCs were almost perfect when measuring PiSca and MRI, and substantial to almost perfect for RaUl. Pearson's correlation showed a moderate, positive correlation between PiSca and RaUl distances (r = 0.608; p < 0.001), and a moderate, negative correlation between RaUl distance and MRI shift (r = - 0.486; p = 0.010). When the three core groups (peripheral, central tear, controls) were compared to each other regarding the radiographic instability parameters, only the MRI shift revealed a statistically significant difference (p = 0.003). Comparisons revealed significant differences between patients and controls (p = 0.004) and peripheral tears vs. controls (p = 0.001 and p = 0.010). The ROC analysis revealed a significant AUC only for the MRI (AuC 0.787 and p = 0.002). CONCLUSIONS: Children and adolescents with peripheral TFCC tears showed significantly increased instability parameters in MRI compared to controls. These measurement techniques are no replacement for a thorough clinical examination but may be helpful for indicating diagnostic wrist arthroscopy in ambiguous cases. LEVEL OF EVIDENCE: Level III; Diagnostic.

Outcomes after thumb carpometacarpal joint stabilization with an abductor pollicis longus tendon strip for the treatment of chronic instability.

INTRODUCTION: Instabilities of the thumb carpometacarpal (CMC) joint, caused by idiopathic ligamentous hyperlaxity, trauma or other conditions may lead to pain, functional impairment and eventually osteoarthritis. Several techniques have been described to enhance stability of the CMC 1. The aim of this study was to evaluate postoperative outcomes after CMC 1 joint stabilization using a soft-tissue procedure in patients with chronic instability. MATERIALS AND METHODS: This study was designed as a retrospective study with a single follow-up visit after a minimum of 1 year postoperatively. All patients who underwent stabilization of the CMC 1 with an abductor pollicis longus (APL) tendon strip for chronic, habitual instability were re-assessed using clinical examination, dedicated outcome scores [Visual Analogue Scale (VAS); The Disability of the Arm, Shoulder and Hand (DASH) score; Nelson score; Kapandji opposition score], grip and pinch strength measurements, and radiographic examination. RESULTS: 12 patients (15 operated thumbs) with a mean age at surgery of 23.2 (± 9.3) years were included after a mean follow-up period of 3.5 (± 1.3) years. The postoperative outcomes indicated excellent results, with a mean DASH score of 13.3 (± 11.3), VAS 1.1 at rest (and 2.8 during stress) and Nelson score of 87.7 (± 11.3). Postoperative grip, pinch strength and passive stability were not significantly different between operated and non-operated sides (p = 0.852; p = 0.923 and p = 0.428, respectively). We observed one case of recurrent instability besides no other complications. However, patients with trapezium hypoplasia (5 of 12) were more prone to signs of radiographic instability during stress testing. CONCLUSIONS: Thumb carpometacarpal stabilization with an APL tendon strip yielded excellent clinical outcomes and low morbidity in the mid-term. However, long-term follow-up is needed to assess specifically whether patients with trapezium hypoplasia may be more prone to clinical symptom recurrence than those with normal anatomy. LEVEL OF EVIDENCE: Level IV.

Arthrogryposis is a descriptive term, not a specific disease entity: escobar syndrome is an Example.

BACKGROUND: Children born with multiple congenital contractures have been almost always given the diagnosis of arthrogryposis multiplex congenita. Arthrogryposis is a descriptive term, not a specific disease entity. A heterogeneous group of conditions associated with multiple congenital joint contractures (mostly syndromic) should be considered. METHODS: The records of seven children (four boys and three girls with aged 6months- 11 years) of different ethnic origins have been included in this study. The constellation of specific craniofacial dysmorphic features, spine malformation complex, and appendicular skeletal abnormalities in addition to camptodactyly, talipes equinovarus and rocker- bottom feet were a cluster of malformation complex encountered in our patients. Via comprehensive clinical and imaging study (3D reconstruction CT scan), definite diagnosis of Escobar syndrome has been approached. RESULTS: The clinical and imaging phenotype was the key factor towards etiological understanding, treatment and genotype confirmation. We identified compound heterozygous mutations (c.459dupA [p.Val154Serfs*24] and c.794T>G [p.Leu265Serfs*24] of the CHRNG gene in four patients. Bilateral flexion contractures of the knees have been treated by using Iliazarov external fixator. Simultaneous corrections of scoliosis have been achieved by applying either dual traditional growing rods or single growing rods. CONCLUSIONS: The clinical and radiological phenotypic characterizations are the fundamental tool in differentiating Escobar from other forms of multiple contractures. The aim of this study are three folds, firstly to demonstrate the importance of detecting the etiological understanding in children presented with multiple contractures, secondly to refute the general conception among the vast majority of pediatricians and orthopedic surgeons that arthrogryposis multiplex is a diagnostic entity. And thirdly, we were able to detect severe spine deformity via 3D reconstruction CT scan, namely unsegmented posterior spinal bar.

Multidisciplinary patient care in X-linked hypophosphatemic rickets: one challenge, many perspectives.

X­linked hypophosphatemic rickets (XLH, OMIM #307800) is a rare genetic metabolic disorder caused by dysregulation of fibroblast-like growth factor 23 (FGF23) leading to profound reduction in renal phosphate reabsorption. Impaired growth, severe rickets and complex skeletal deformities are direct consequences of hypophosphatemia representing major symptoms of XLH during childhood. In adults, secondary complications including early development of osteoarthritis substantially impair quality of life and cause significant clinical burden. With the global approval of the monoclonal FGF23 antibody burosumab, a targeted treatment with promising results in phase III studies is available for children with XLH. Nevertheless, complete phenotypic rescue is rarely achieved and remaining multisystemic symptoms demand multidisciplinary specialist care. Coordination of patient management within the major medical disciplines is a mainstay to optimize treatment and reduce disease burden. This review aims to depict different perspectives in XLH patient care in the setting of a multidisciplinary centre of expertise for rare bone diseases.

Rebound of Frontal Plane Malalignment After Tension Band Plating.

BACKGROUND: Despite the popularity of tension band plating (TBP) current literature lacks clinical data concerning recurrence ("rebound") of frontal plane malalignment. This study investigated the rebound phenomenon after TBP in idiopathic genu varum/valgum deformities. We analyzed factors that may contribute to the development of rebound after removal of TBP. METHODS: Patients who had correction of idiopathic valgus or varus deformities by TBP at the distal femoral and/or proximal tibial growth plate were selected from a prospective consecutive database. Only patients who had plates removed for at least 1 year and had a long standing radiograph of the lower limbs before plate removal were included. Patients who had presumably not yet reached skeletal maturity (age under 14 y for girls and under 16 y for boys) were excluded. The change of the mechanical axis from plate removal to follow-up after skeletal maturity was evaluated and a statistical analysis was performed. RESULTS: Twenty-nine patients (64 extremities) were eligible. The mean follow-up was 39.1 months (range, 12.3 to 67.3 mo). The mean mechanical axis deviation (MAD) was +0.8 mm (range, -26 to +22 mm) after plate removal and -2.4 mm (range, -29 to +27 mm) at follow-up, accounting for a significant change of MAD (P=0.046). We observed a mean, relative recurrence of frontal plate malalignment into valgus direction of -3.2 mm (range, -48 to +23 mm). Twenty extremities (31%) showed <3 mm of MAD change; 27 extremities (42%) showed >3 mm of MAD change into valgus, and 17 extremities (27%) >3 mm of MAD change into varus direction. Patients with <3 mm MAD change had only 0.8 years, and those >3 mm a mean of 2.0 years of remaining growth until skeletal maturity. Each additional m/kg of body mass index increased the risk of valgus recurrence by 12.1%. The 3 genua vara patients revealed to have an even higher rate of malalignment recurrence (4 of 6 limbs) at final follow-up. CONCLUSIONS: Given our strict criteria, there is a high rate of radiologic recurrence of frontal plane malalignment after TBP. Children who are more than 1 year before skeletal maturity at TBP removal, and those with increased body mass index are at higher risk for rebound growth. LEVEL OF EVIDENCE: Level IV-consecutive therapeutic case series.

Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.

Mutations in genes encoding enzymes responsible for the biosynthesis and structural diversity of glycosaminoglycans (GAGs) cause a variety of disorders affecting bone and connective tissues, including Desbuquois dysplasia (DD). In an infant with prenatal-onset disproportionate short stature, joint laxity, and radiographic findings typical for DD compound-heterozygosity for a large intragenic deletion, and a p.Pro384Arg missense mutation in CSGALNACT1 was found. CSGALNACT1 encodes chondroitin sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1, ChGn-1), which initiates chondroitin sulfate (CS) chain biosynthesis on the so-called GAG-protein linker region tetrasaccharide. Biochemical studies revealed a reduced GalNAc-transferase activity of the Arg-384 mutant protein, whereas no differences in proteoglycan synthesis in fibroblasts and the GAG content in the urine were found between patient and controls. This is the first description of bi-allelic loss-of-function mutations in CSGALNACT1 that produce a skeletal dysplasia reminiscent of the skeletal dysplasia of Csgalnact1-/- mice, and adds to the genetic heterogeneity of DD.

Distinctive spine abnormalities in patients with Goldenhar syndrome: tomographic assessment.

PURPOSE: Goldenhar syndrome consists of a combination of unilateral auricular appendages, auricular fistulas, and ocular epibulbar dermoids combined with a unilateral underdevelopment of the craniofacial structures and vertebral abnormalities. We aimed to elicit the underlying spine pathology in a group of patients via tomographic assessment. MATERIALS AND METHODS: Hemifacial microsomia, cranial asymmetry, multiple ear tags, skin tags around the mouth and microtia were the most prominent facial features encountered in six patients with Goldenhar syndrome. Torticollis and cervico-thoracic scoliosis were the major deformities encountered in all patients. Thoraco-lumbar scoliosis and kyphoscoliosis were of lesser occurrence. Tomographic studies have been applied to all patients to delineate the underlying pathology. RESULTS: Diverse spectrum of distinctive spine anomalies has been identified. Malsegmentation of the skull base associated with diffuse fusion with the upper cervical vertebrae was the most common spine pathology. Bilateral failure of segmentation, unilateral unsegmented bar and failure of vertebral formation were of lesser occurrence. Strikingly, we observed that the side of the hemifacial microsomia is strongly correlated with that of the craniocervical and the cervical vertebral abnormalities. CONCLUSION: The importance of this paper is threefold; first, little information is available in the literature regarding the magnitude and the diversity of spine pathology in patients with Goldenhar syndrome. Second, is to alert spine specialists that conventional radiographic assessment of the craniocervical area is an insufficient modality to assess children with syndromic associations. Third, a rotation and flexion deformity of the neck associated with facial asymmetry and/or plagiocephaly should be considered as a syndromic entity rather than a simple physiological deformation.

Clinical experience with arthroscopically-assisted repair of peripheral triangular fibrocartilage complex tears in adolescents--technique and results.

PURPOSE: The purpose of this study was to report our preliminary results after arthroscopically-assisted repair of peripheral triangular fibrocartilage complex (TFCC) tears in adolescent patients. METHODS: All children and adolescents who underwent arthroscopically-assisted repair of a Palmer 1B tear were identified and prospectively evaluated after a mean follow-up of 1.3 years. The postoperative assessment included documentation of clinical parameters, pain score (visual analogue scale, VAS), grip strength and completion of validated outcome scores (Modified Mayo Wrist Score, MMWS; Disabilities of the Arm, Shoulder and Hand Inventory, DASH). A total of 12 patients (four males, eight females) with a mean age of 16.3 years at the time of surgery were evaluated. RESULTS: The mean VAS decreased significantly from 7.0 to 1.7 after the procedure. We observed a significant increase of the MMWS after surgery; however, MMWS was still significantly lower at final follow-up when compared to the contralateral side. A mean postoperative DASH score of 16 indicated an excellent outcome after the procedure. DASH Sports and Work Modules showed fair and good overall outcomes in the short-term, respectively. Grip strength averaged 86 % of the contralateral side at final follow-up, with no significant difference being found between both sides. CONCLUSIONS: Arthroscopically-assisted repair of peripheral TFCC tears in adolescents provided predictable pain relief and markedly improved functional outcome scores. Concomitant pathologies may have to be addressed at the same time to eventually achieve a satisfactory outcome. Sports participation, however, may be compromised in the short-term and should therefore be resumed six months postoperatively.

A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3.

We describe a-2-year-old boy who presented with a neonatal history of thrombocytopenia associated with a constellation of limb malformations mimicking split hand/foot malformation with long bone deficiency (SHFLD) syndrome. Limb malformations consisted of unilateral monodactyly with radial aplasia, unilateral split foot and bilateral club foot. Tibial aplasia of one limb and tibial hypoplasia of the other limb were notable. Partial agenesis of the sacrum was additional skeletal malformation. Craniofacial features included dense thick scalp hair, narrow frontal area, thick eye-brows, deep-set eyes, depressed nasal bridge, and small overhanging nasal tip, full-cheeks, and large ears. Array-CGH showed duplication of the short arm of chromosome 17p13.3 in the boy and his father, respectively. The father was free from any skeletal abnormalities, though he shares similar craniofacial dysmorphic features like his son. In addition, a paternal sib (uncle of the proband) manifested a phenotype similar to that of the proband. To the best of our knowledge the overall phenotypic and genotypic characterizations were consistent but not completely compatible with the traditional type of TAR syndrome or with SHFLD syndrome. We report on what might be a novel variant of SHFLD associated with transient thrombocytopenia, dysmorphic facial features, and a constellation of bone malformations.

Prevalence of osteoarthritis and clinical results after the Elmslie-Trillat procedure: a retrospective long-term follow-up.

PURPOSE: Tibial tuberosity medialisation may be followed by osteoarthritis in the long term due to increased patellofemoral contact pressure and altered knee joint kinematics. We aimed to (1) systematically assess the grades of tibiofemoral and patellofemoral osteoarthritis ten to 30 years after the Elmslie-Trillat procedure and (2) to evaluate long-term knee function and activities of daily living. METHODS: A total of 26 patients (30 knees) were re-evaluated at a minimum follow-up of 12.3 years (mean 20.9 ± 4.1 years). Osteoarthritis was graded according to Kellgren and Lawrence (K/L) and Sperner. All patients were clinically evaluated using the Knee Society Score (KSS) and Knee injury and Osteoarthritis Outcome Score (KOOS). Radiographic data were compared to an age-, sex- and body mass index-matched control group of healthy patients. RESULTS: Radiographic evaluation revealed seven cases (23.3%) with advanced osteoarthritis (K/L and Sperner grades 3 and 4). However, the observed differences from the matched cohort were not statistically significant (P = 0.189). A positive correlation was found between the age at index procedure and tibiofemoral osteoarthritis at follow-up (P = 0.013). Patient satisfaction was relatively high, showing a mean KSS of 89.9 (knee score) and 94.8 (function score), and a mean KOOS of 78.7. However, we noted four cases of frequent patellar re-dislocations and three total knee arthroplasties. CONCLUSIONS: The Elmslie-Trillat procedure was associated with several cases of advanced tibiofemoral and patellofemoral osteoarthritis in the long term, especially if the procedure was performed late. Clinical results were still good to excellent in the majority of patients despite some observed cases of re-dislocations and decreased ability to perform sports.