Publications by authors named "Mihir M Thacker"

51 Publications

Neuromonitoring for Proximal Fibular Osteochondroma Excision.

J Pediatr Orthop 2022 Jul 29;42(6):e667-e673. Epub 2022 Mar 29.

Department of Orthopaedic Surgery, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.

Background: The peroneal nerve is at risk when excising tumors in the proximal fibula. The rate of nerve injuries during proximal fibular tumor resection varies from 3% to 20%. Our goal was to report our experience with resection of osteochondromas in the proximal fibula and describe the technique and utility of neuromonitoring during excision of proximal fibular osteochondromas (PFO).

Methods: Patients with a diagnosis of symptomatic PFO who had undergone excision at one institution from 1994 to 2018 were included. An institutional review board-approved retrospective review was performed. Intraoperative neuromonitoring was provided from 2006 on by a single group utilizing a multimodality protocol.

Results: This study contains 29 patients who had excision of osteochondromas in the proximal fibula. Of these 29 consecutively monitored patients, there were 34 involved extremities. Intraoperative neuromonitoring alerts occurred in 10/29 (34.5%) procedures, which included 3 electromyography (EMG) (30%), 2 motor-evoked potential (20%), 1 somatosensory-evoked potential (10%), and 4 alerts with a combination of EMG/motor-evoked potential/somatosensory-evoked potential changes (40%). The interventions that were taken resulted in resolution of the neuromonitoring changes in all procedures. Postoperatively, we noted 2 (6.9%) new mild sensory deficits, which resolved during follow up. There were 3 patients in whom pre-existing sensory-motor deficits improved but not completely after surgery, 1 motor weakness, and 2 with residual paresthesia. In those initially presenting with paresis, there was improvement in 8 of the 8 extremities by the last follow-up visit. Pain as a symptom was resolved in all cases. There were no iatrogenic foot drop injuries. The average follow up was 32.2 months.

Conclusions: Neuromonitoring during PFO excision demonstrated a high number of alerts, all of which resolved following timely corrective action. The use of neuromonitoring may help decrease the risk of iatrogenic postoperative neurological deficits following fibular osteochondroma surgery.

Level Of Evidence: Level IV.
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http://dx.doi.org/10.1097/BPO.0000000000002149DOI Listing
July 2022

Outcomes of medial patellofemoral ligament reconstruction and tibial tubercle osteotomy in syndromic adolescents with patellar dislocation.

J Clin Orthop Trauma 2022 Feb 14;25:101770. Epub 2022 Jan 14.

Department of Orthopaedic Surgery, Nemours/Alfred I. DuPont Hospital for Children, 1600 Rockland Rd., Wilmington, DE, 19803, USA.

Background: Treatment of congenital and habitual dislocation of the patella in syndromic adolescents can be difficult due to accompanying soft-tissue and/or osseous abnormalities often present in the knee. The aim of this study was to report the results of surgical treatment of congenital and habitual patellar dislocation with medial patellofemoral ligament (MPFL) reconstruction and tibial tubercle osteotomy (TTO) in adolescents with an underlying syndrome.

Methods: Syndromic adolescent patients with congenital or habitual patellar dislocation treated with MPFL reconstruction and TTO between 2005 and 2019 with a minimum of one year of follow-up were identified. Demographic, clinical, radiographic, and surgical data were recorded, and any complications were noted. Kujala and Lysholm scores were used to quantitate knee function.

Results: Seventeen knees in 11 patients met the criteria for inclusion. The mean age at operation was 14.8 years (range, 13.3-18.3 years). Patients were identified as having Ehlers-Danlos (four), Down (two), trichorhinophalangeal (one), McCune-Albright (one), Klippel-Feil (one), and generalized joint hypermobility (two) syndromes. The mean follow-up was 2.2 years for each individual knee (range, 1-5.9 years). The mean Kujala score increased from 56 ± 10 preoperatively to 86 ± 6 at the most recent postoperative visit (p < 0.001). The mean Lysholm score increased from 53 ± 10 preoperatively to 85 ± 7 at the most recent postoperative visit (p < 0.001). Knee flexion increased significantly from 117° ± 15° preoperatively to 154° ± 13° postoperatively (p < 0.001). However, knee extension was no different pre- and postoperatively (4° ± 8° vs. 1° ± 4°, respectively, p = 0.2).

Conclusions: Congenital and habitual patellar dislocation in adolescent-aged patients with an underlying syndromic diagnosis can be successfully treated with MPFL reconstruction combined with TTO.
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http://dx.doi.org/10.1016/j.jcot.2022.101770DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8803613PMC
February 2022

Risk Factors for Rebound After Correction of Genu Valgum in Skeletal Dysplasia Patients Treated by Tension Band Plates.

J Pediatr Orthop 2022 Apr;42(4):190-194

Department of Orthopaedics, Nemours Childrens Hospital, Delaware, Wilmington, DE.

Background: Growth modulation using tension band plates (TBPs) is increasingly important for lower limb deformity correction in patients with skeletal dysplasia (SKD). Development of rebound deformity is a concern after TBP removal. Data regarding this complication are rare; therefore, we evaluated the prevalence and risk factors for rebound deformity in children with SKD undergoing correction of genu valgum using TBP.

Methods: All patients with SKD with genu valgum treated by TBP at the distal femur or/and proximal tibia at a single center were reviewed. Inclusion criteria were: (1) minimum 2-year follow-up after TBP removal or having revision surgery for rebound deformity and (2) implant removal age for girls 14 years and below and boys 16 years and below. Exclusion criteria were any femoral/tibial osteotomies during TBP treatment or follow-up. A change of ≥3 degrees of mechanical lateral distal femoral and/or medial proximal tibial angle was accepted as rebound deformity and analyzed statistically.

Results: Thirty-three patients (59 limbs; 52 femur and 29 tibia physes) met our criteria. Mean follow-up after implant removal was 43.7 months. Rebound deformities were seen in 43 limbs (39 femurs and 13 tibias). Boys had more rebound than girls; however, this was not influenced by body mass index. Femurs had more rebound than tibias. Patients in the rebound group were younger than the nonrebound group. Time from application to removal of TBP was shorter in the rebound versus nonrebound group. Overcorrected limbs had more rebound deformity than not overcorrected. The difference in growth velocity of lower limbs in the rebound versus nonrebound group was statistically significant. Patients with epiphyseal dysplasia had more rebound than metaphyseal dysplasia, but this was not statistically significant.

Conclusion: Risk factors for developing a rebound deformity after correction of genu valgum using TBP in SKD included male sex, TBP surgery at a young age, short duration of TBP implantation, overcorrected extremity (mechanical axis deviation ≤1), and high percent growth velocity after TBP removal.

Level Of Evidence: Level IV-retrospective study.
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http://dx.doi.org/10.1097/BPO.0000000000002053DOI Listing
April 2022

Risk Factors for Failure of Pavlik Harness Treatment in Infants With Dislocated Hips That Are Evaluated by Dynamic Sonography.

J Pediatr Orthop 2021 Jul;41(6):e386-e391

Department of Orthopaedic Surgery, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.

Background: Frankly dislocated hips occur in ∼1% to 3% of infants with developmental dysplasia of the hip and are often difficult to treat. In the most severely dislocated hips, the femoral head is positioned outside the posterior/lateral rim of the acetabulum and is irreducible, that is, the femoral head will not reduce by positioning the leg. The purpose of this study was to determine risk factors, using univariate and multivariate analyses, for Pavlik harness failure in infants who initially presented with irreducible/dislocated hips (confirmed by dynamic sonography).

Methods: Following institutional review board approval, 124 infants (170 hips) with frankly dislocated hips treated using a Pavlik harness between 2000 and 2018 were evaluated. Patients' demographic characteristics, clinical findings, dynamic sonographic findings (dislocated-fixed vs. dislocated-mobile), age at onset of Pavlik harness treatment, duration of harness usage, and follow-up treatments were recorded. Univariate analyses were used to determine risk factors for treatment failure.

Results: In frankly dislocated hips (confirmed by dynamic sonography to be positioned outside the posterior/lateral rim of the acetabulum), Pavlik harness treatment was successful in 104 of 170 hips (61%) while it failed in 66 hips. Mean follow-up was 4.86±4.20 years. Univariate analysis determined the risk factors to be onset of treatment after the seventh week of age (P=0.049) and initial mobility (dislocated-fixed group) (P<0.001) by dynamic sonography. In addition, multivariate analysis (P=0.007) showed infants of multigravida mothers (non-firstborn) to be another risk factor for failure. Six percent of hips with no risk factors failed Pavlik harness treatment, those with 1 risk factor had 42% failure, 2 risk factors had 69% failure, and all 3 risk factors had 100% failure.

Conclusions: In our patients with frankly dislocated irreducible hips, 39% of hip failed Pavlik harness treatment. Independent multivariate, logistic regression analysis, and multivariate analysis determining the risk factors for failure of Pavlik harness treatment were onset of treatment after the seventh week of age, infants of multigravida mothers, and initial hip mobility (fixed-dislocated hips) by dynamic sonography.

Level Of Evidence: Level III.
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http://dx.doi.org/10.1097/BPO.0000000000001799DOI Listing
July 2021

Pediatric Tumor Management: Current and Controversial.

Instr Course Lect 2021 ;70:453-464

Bone and soft-tissue tumors are common in the pediatric population. It is important to be familiar with the appropriate workup, principles of biopsy, differences between unicameral and aneurysmal bone cysts, and principles of managing pathologic fractures in children. The management approach to pediatric soft-tissue masses and some of the recent advances in the field warrant discussion.
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January 2021

Infantile Tibia Vara (Blount Disease) with Iatrogenic Changes Causing Residual Tibial Deformities.

J Surg Orthop Adv 2020 ;29(3):141-148

Department of Orthopaedic Surgery, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

Treatment of infantile tibia vara or Blount disease (ITV/BD) in patients < 3 years old and Langenskiold stages I-III consists of orthosis and, in relapsing cases, proximal tibial osteotomy and/or proximal tibial guided growth laterally with a tension band plate. Our aim was to evaluate the results of treatments in a consecutive group. After Institutional Review Board approval, data from 2002 to 2018 were collected. Thirty-nine knees (average age 22.4 months) with ITV/BD were treated with orthoses, and 10 knees failed. Six knees showed hyperintense T2-weighted signal in the medial proximal tibial epiphyseal cartilage on magnetic resonance imaging. Three of six knees with tibial osteotomy failed and underwent guided growth. Tibial plateau slopes were abnormal medially from the ITV/BD and laterally from the guided growth (triangular physis and depressed plateau deformities) because of factors such as orthotic treatment, tibial osteotomy, magnetic resonance imaging "physis severity score," and guided growth. (Journal of Surgical Orthopaedic Advances 29(3):141-148, 2020).
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November 2020

Pediatric Chondroblastoma and the Need for Lung Staging at Presentation.

J Pediatr Orthop 2020 Oct;40(9):e894-e897

Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.

Purpose: Chondroblastoma is a benign, but potentially locally aggressive, bone tumor with predilection for the epiphysis of long bones in growing children. Historically, there is a reported 2% risk of lung metastasis, however these cases are mostly in the form of isolated single reports and the vast majority in adults. The purpose of this study was to identify the "true" risk of lung metastases at presentation in skeletally immature patients with a benign chondroblastoma, and therefore revisit the need for routine chest staging.

Methods: This was a multi-institution, international retrospective study of children and adolescents diagnosed and treated for a benign chondroblastoma. We focused on the screening and diagnosis of lung metastasis, type of staging utilized and the incidence of local recurrence. Detailed review of the available literature was also performed for comparison.

Results: The final studied cohort included 130 children with an average age of 14.5 years (range: 6 to 18 y). There were 94 boys and 36 girls. Lesions more often involved the proximal humerus (32/130), proximal tibia (30/130), and proximal femur (28/130). At an average follow-up of 50 months, there were 15 local recurrences (11% rate) and no cases of lung metastasis. All patients underwent chest imaging at presentation. The overall reported lung metastases rate in the pulled literature review (larger series only) was 0.4% (7/1625), all patients were skeletally mature.

Conclusions: This is the largest cohort of pediatric-exclusive chondroblastoma in the literature. Despite minor differences in management between the centers included, the recurrence rate was similar and there was no evidence of lung metastasis (0 in 130). The incidence of distant involvement in a true benign chondroblastoma in children is much lower than the 2% previously reported in the literature, and the need for routine chest staging should be revisited.

Level Of Evidence: Level III.
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http://dx.doi.org/10.1097/BPO.0000000000001631DOI Listing
October 2020

Validation of Pediatric Self-Report Patient-Reported Outcomes Measurement Information System (PROMIS) Measures in Different Stages of Legg-Calvé-Perthes Disease.

J Pediatr Orthop 2020 May-Jun;40(5):235-240

Texas Scottish Rite Hospital for Children.

Objectives: Patient-reported outcomes (PRO) assessing health-related quality of life (HRQoL) are important outcome measures, especially in Legg-Calvé-Perthes disease (LCPD) where symptoms (pain and limping), activity restrictions, and treatments vary depending on the stage of the disease. The purpose of this study was to investigate the validity of the Patient-reported Outcomes Measurement Information System (PROMIS) for measuring HRQoL of patients with LCPD in various stages of the disease.

Methods: This is a multicenter validity study. Patients with LCPD between 4 and 18 years old were included and classified into modified Waldenström stages of disease: Early (1 or 2A), Late (2B or 3), or Healed (4). Seven PROMIS domains were collected, including Pain Interference, Fatigue, Mobility, Depression, Anger, Anxiety, and Peer Relationships. Convergent, discriminant, and known group validity was determined.

Results: A total of 190 patients were included (mean age: 10.4±3.1 y). All 7 domains showed the worst scores in patients in the Early stage (known group validity). Within each domain, all domains positively correlated to each other (convergent validity). Patients who reported more anxiety, depression, and anger were associated with decreased mobility and increased fatigue and pain. Peer relationships had no to weak associations with other domains (discriminant validity).

Conclusions: PROMIS has construct validity in measuring the HRQoL of patients in different stages of LCPD, suggesting that PROMIS has potential to serve as a patient-reported outcome tool for this population.

Level Of Evidence: Diagnostic level III study.
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http://dx.doi.org/10.1097/BPO.0000000000001423DOI Listing
October 2020

Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Am J Med Genet A 2019 09 20;179(9):1725-1744. Epub 2019 Jun 20.

Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California.

Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have distinctive craniofacial features, cardiac anomalies, growth and developmental delays, as well as dermatological, orthopedic, ocular, and neurological issues; however, considerable overlap with other RASopathies exists. Medical evaluation requires an understanding of the multifaceted phenotype. Subspecialists may have limited experience in caring for these individuals because of the rarity of CS. Furthermore, the phenotypic presentation may vary with the underlying genotype. These guidelines were developed by an interdisciplinary team of experts in order to encourage timely health care practices and provide medical management guidelines for the primary and specialty care provider, as well as for the families and affected individuals across their lifespan. These guidelines are based on expert opinion and do not represent evidence-based guidelines due to the lack of data for this rare condition.
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http://dx.doi.org/10.1002/ajmg.a.61270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8238015PMC
September 2019

Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients.

Am J Med Genet A 2017 Dec 28;173(12):3205-3210. Epub 2017 Oct 28.

Division of Medical Genetics, Nemours-Alfred I. duPont Hospital for Children, Wilmington, Delaware.

Small supernumerary ring chromosome 6 (sSRC[6]) is a rare chromosomal abnormality characterized by a broad clinical phenotype. The spectrum of this disorder can range from phenotypically normal to severe developmental delay and congenital anomalies. We describe two unrelated patients with small SRCs derived from chromosome 6 with a novel bone phenotype. Both patients presented with a complex bone disorder characterized by severe osteopenia, pathologic fractures, and cyst-like lesions within the bone. Imaging revealed decreased bone mineral density, mutiple multiloculated cysts and cortical thinning. Lesion pathology in both patients demonstrated a bland cyst wall with woven dysplastic appearing bone entrapped within it. In patient 1, array comparative genomic hybridization (CGH) detected a tandem duplication of region 6p12.3 to 6q12 per marker chromosome. Cytogenetic analysis further revealed a complex patient of mosaicism with some cell lines displaying either one or two copies of the marker indicative of both tetrasomy and hexasomy of this region. Patient 2 was mosaic for a sSRC that encompassed a 26.8 Mb gain from 6p21.2 to 6q12. We performed an in-depth clinical analysis of a phenotype not previously observed in sSRC(6) patients and discuss the potential influence of genes located within this region on the skeletal presentation observed.
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http://dx.doi.org/10.1002/ajmg.a.38498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5687301PMC
December 2017

Oral glucocorticoid use and osteonecrosis in children and adults with chronic inflammatory diseases: a population-based cohort study.

BMJ Open 2017 Jul 21;7(7):e016788. Epub 2017 Jul 21.

Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Objectives: We studied oral glucocorticoids and osteonecrosis, a rare but serious bone disease, in individuals with various chronic inflammatory diseases. We hypothesised that we would find stronger associations in adults versus children and in people with autoimmune diseases.

Design: Retrospective cohort study.

Setting: Population-representative data (1994-2013) from general practices in the UK.

Participants: Children and adults diagnosed with asthma; inflammatory bowel disease; juvenile, psoriatic or rheumatoid arthritis; psoriasis; or systemic lupus.

Exposures: Oral glucocorticoid patterns.

Primary And Secondary Outcome Measures: Diagnosed osteonecrosis (primary) and osteonecrosis plus clinical features (eg, symptoms, pain medication, surgical repair) (secondary). Discrete time failure models estimated the adjusted hazard ratio (aHR) of incident osteonecrosis following oral glucocorticoid exposure. Hypothesis testing was one sided (with corresponding 90% CI) since glucocorticoids were unlikely protective.

Results: After adjusting for demographic, disease-related and health utilisation factors, glucocorticoid exposure was associated with osteonecrosis in adults (ages 18-49, aHR 2.1 (90% CI 1.5 to 2.9); ages ≥50, aHR 1.3 (90% CI 1.01 to 1.7)). However, low-dose glucocorticoids, corresponding to average doses <7.5 mg prednisolone daily and maximum doses <30 mg daily, were not associated with osteonecrosis in adults. Furthermore, even at high glucocorticoid doses, there was no evidence of increased osteonecrosis among glucocorticoid-exposed children (p=0.04 for interaction by age) (any glucocorticoid exposure, ages 2-9: aHR 1.1 (90% CI 0.7 to 1.7); ages 10-17: aHR 0.6 (90% CI 0.3 to 1.6)). Arthritis, inflammatory bowel disease and lupus were independently associated with osteonecrosis, but there was a similar dose relationship between glucocorticoids and osteonecrosis among adults with low-risk and high-risk diseases.

Conclusions: Glucocorticoid use was clearly associated with osteonecrosis in a dose-related fashion in adults, especially young adults, but this risk was not detectable in children. The absolute risk of glucocorticoid-associated osteonecrosis in the general paediatric population and in adults taking low glucocorticoid doses is at most extremely small.
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http://dx.doi.org/10.1136/bmjopen-2017-016788DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5642748PMC
July 2017

Radiographic Analysis of the Pediatric Hip Patients With Hereditary Multiple Exostoses (HME).

J Pediatr Orthop 2018 Jul;38(6):305-311

Department of Orthopedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.

Background: This study aimed to report the radiographic presentation of involved hips in children with hereditary multiple exostoses (HME). This included radiographic hip measurements, osteochondromas location, and relationship with hip subluxation.

Methods: Anteroposterior pelvis radiographs of children with HME, seen between 2003 and 2014, were retrospectively reviewed. Only patients who were skeletally immature at the first visit were included. One radiograph per patient per year was reviewed. Radiographs were examined for the presence of osteochondromas and their locations. Different parameters were evaluated: femoral neck-shaft angle, Reimer migration percentage (MP), Sharp acetabular angle, Wiberg angle, femoral head-neck ratio (coronal plane), and Shenton line. All measured radiographs were divided into 3 age groups:≤8,>8 and <13, and ≥13 years. Differences of the measured parameters with age were evaluated. Children with hip subluxation were identified and any relationship with osteochondromas locations, as well as MP changes over time, was recorded. Radiographs of children with a minimum 2-year follow-up were identified and changes of their hip measurements and osteochondromas' presence over time were recorded.

Results: A total of 51 children (102 hips) with HME were identified. In most locations, there was an overall increase of the occurrence of osteochondromas in the older age groups. However, in the medial femoral neck, a significantly less numbers of osteochondromas were found after 13 years of age (P=0.018). There was a decrease in MP with age (P<0.05). There was also an increase in Sharp and Wiberg angles in the older patients (P<0.05). Hips with broken Shenton line decreased in number with age (P 0.028). Hip subluxation was encountered in 23 hips. No specific location of osteochondromas was found to have a relationship with subluxation. Thirty-six children had a minimum follow-up of 2 years (mean age at first visit 8.5 y and at last visit 13.1 y). In these children, an increased occurrence of lesions was found in medial femoral neck and ischium (P<0.05) between the first and the last visit.

Conclusions: In children with HME, radiographic evaluation of the hip is necessary based on the high percentage of hip involvement. When hip osteochondromas are found, radiographic surveillance is recommended to detect hip subluxation. Surgery may certainly be necessary for symptomatic osteochondromas. However, given the possibility of improvement in hip parameters with age, early surgical treatment to improve hip longevity does not seem to be warranted.

Level Of Evidence: Level IV-prognostic study.
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http://dx.doi.org/10.1097/BPO.0000000000000815DOI Listing
July 2018

CORR Insights (®) : Higher Pavlik Harness Treatment Failure Is Seen in Graf Type IV Ortolani-Positive Hips in Males.

Authors:
Mihir M Thacker

Clin Orthop Relat Res 2016 08 6;474(8):1855-6. Epub 2016 May 6.

Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE, 19803, USA.

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http://dx.doi.org/10.1007/s11999-016-4865-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4925416PMC
August 2016

Magnetic Resonance Imaging in Symptomatic Children With Hereditary Multiple Exostoses of the Hip.

J Pediatr Orthop 2018 Feb;38(2):116-121

Department of Orthopedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.

Background: Magnetic resonance imaging (MRI) is useful in evaluating nontraumatic hip pain. It provides information about associated injuries like labral/chondral tears or ischiofemoral impingement (IFI). However, in hereditary multiple exostoses (HME) there has been no report about MRI findings in symptomatic children with hip involvement.

Methods: Records of children with HME and hip osteochondromas, who had hip MRI/magnetic resonance arthrography, were reviewed. The presence of chondral lesions and labral tears, as well the presence of IFI, was recorded. IFI was defined as edema or fatty replacement/atrophy in the quadratus femoris muscle or decrease of the space for this muscle between the ischium and the proximal femur. The measurements used to determine the space included the ischiofemoral space, the quadratus femoris space, and the minimum ischiofemoral space (MIFS). All measurements were performed on axial T1-weighted images.

Results: Ten children were included (4 males, 6 females). In 2 patients, MRI was unilateral, therefore a total of 18 hips were analyzed. The indication for MRI was hip pain. Mean age, when MRI was performed, was 11.7 years. Labral tears were found in 44% (8/18) and chondral lesions in 33% (6/18) of the hips. The mean ischiofemoral space was 17.2 mm (SD, 7.3), the mean quadratus femoris space was 14.9 mm (SD, 5.3), and the mean MIFS was of 12.8 mm (SD, 5.9). IFI was seen in 44% (8/18) of hips. Two patients had bilateral IFI. MIFS was <10 mm in all hips with IFI (8/8). Of these hips, 88% (7/8) had edema of the quadratus femoris muscle and 38% (3/8) had fatty replacement/atrophy in the muscle. Osteochondromas were seen in the lesser trochanter in all hips with IFI (8/8) and in the ischium in 50% of them (4/8).

Conclusions: In symptomatic children with HME of the hip, MRI is helpful in detecting the source of pain. A high percentage of these children have IFI and intra-articular lesions. These findings can play an important role in the indication and planning of the surgical approach.

Level Of Evidence: Level IV-diagnostic study.
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http://dx.doi.org/10.1097/BPO.0000000000000772DOI Listing
February 2018

Popliteal cysts in children: another look.

J Pediatr Orthop B 2016 Nov;25(6):539-42

Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.

This retrospective review of 46 popliteal cysts seen in 44 patients at a pediatric orthopedic referral center clarifies the presenting symptomatology, associated conditions, and likely duration of a popliteal cyst, and the need for intervention. The patients were followed up for more than 1 year. Thirty-six of the 46 cysts with duration data showed no resolution of the popliteal cyst during the period of observation (average, 32.1 months). The 10 cysts that showed clinical resolution were present for an average of 16.9 months. The benign course of action for virtually all patients obviated the need for intervention and supports the adequacy of only clinical examination, with no need for recurrent sonography.
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http://dx.doi.org/10.1097/BPB.0000000000000272DOI Listing
November 2016

Comparing Percutaneous Physeal Epiphysiodesis and Eight-Plate Epiphysiodesis for the Treatment of Limb Length Discrepancy.

J Pediatr Orthop 2017 Jul/Aug;37(5):323-327

Department of Orthopaedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.

Background: Either percutaneous or eight-plate epiphysiodesis have been shown to be effective growth modulation techniques for the treatment of limb length discrepancies (LLD). However, few studies compared the outcomes of both techniques with some confounding results. The aim of this study was to evaluate the outcomes of the both techniques in the treatment of the LLD.

Methods: Between 2004 and 2012, medical records of all cases that underwent either eight-plate or percutaneous epiphysiodesis (PE) were reviewed. Age at surgery, sex, diagnosis, surgical site (proximal tibia/distal femur), time of follow-up, complications, and additional procedures were noted. Correction of the LLD was evaluated to calculate the rate of correction and the percentage of improvement from the long-leg standing x-rays or scanograms, collected at each visit.

Results: There were 24 patients in the eight-plate (10 girls and 14 boys) and 48 patients in the PE group (28 girls and 20 boys). No statistically significant difference was found in the age, sex, preoperative LLD, or follow-up between groups. Both groups reached to an average LLD below 2 cm. The percentage of improvement was significantly higher in the PE group (P=0.031). The rate of individual femoral and tibial correction did not differ between the groups.

Conclusions: Both methods are shown to be effective for LLD correction. However, PE led to greater improvement during the same follow-up time with fewer complications and less need for additional surgical procedures.
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http://dx.doi.org/10.1097/BPO.0000000000000647DOI Listing
November 2017

Inter-observer reliability of the ankle-brachial index in a pediatric setting.

Del Med J 2015 Mar;87(3):77-80

Objective: The aim of our study was to determine the inter-observer reliability of the ankle-brachial index (ABI) in the pediatric population. This was done to determine if this simple diagnostic test could be utilized in lieu of CT angiograms to reduce radiation exposure to children sustaining trauma, particularly physeal fractures about the knee.

Design: Diagnostic study of consecutive patients with no applied "gold-standard" test.

Setting: Level I pediatric hospital.

Patients/participants: Thirty consecutive patients from a busy fracture clinic were recruited. Patients ranged in age from 7-17 years.

Intervention: Manual systolic blood pressure measurements from uninjured limbs were taken by two independent attending orthopaedic surgeons from the ipsilateral brachial, dorsalis pedis, and posterior tibial arteries of each patient.

Main Outcome Measurements: The intraclass correlation coefficients from each anatomic area were calculated.

Results: Intraclass correlation of measurements from all three anatomic locations showed good inter-observer reliability. The intraclass correlation coefficients from the brachial, dorsalis pedis, and posterior tibial arteries were 0.699, 0.815, and 0.740, respectively. Therefore, the calculation of the ABI was consistent between the two observers despite any variability in individual pressure measurements.

Conclusions: The ABI is a fast, non-invasive test that can be applied to the pediatric population in the evaluation of lower extremity arterial injury associated with orthopaedic trauma. It can obviate the need for tests such as CT angiograms that have inherent risks, particularly those associated with radiation exposure that are of concern in a young child.
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March 2015

Unicameral Bone Cysts in the Humerus: Treatment Outcomes.

J Pediatr Orthop 2016 Jun;36(4):392-9

*Department of Orthopaedic Surgery, Nemours-Alfred I. DuPont Hospital for Children, Wilmington, DE †Thomas Jefferson University, Philadelphia, PA.

Background: Several treatment modalities have been described for the treatment of unicameral bone cysts (UBC). The aim of this study was to examine the outcome of various treatment modalities of UBC in a specific anatomic location, the humerus.

Methods: This study is a retrospective case-only study of patients with humeral UBC with minimum follow-up of 1 year. Medical records and radiographs were assessed and UBC healing status was determined based on most recent follow-up radiographs and divided into 3 groups (healed, partially healed, and not healed). Descriptive statistics were utilized to summarize study outcome.

Results: Sixty-eight patients (54 boys and 14 girls) with humeral UBC comprised the study population. Sixty-four cases (94.1%) presented with a pathologic fracture. Fifty-one cases were in the proximal metaphysis and 17 were in the diaphysis. Mean age at diagnosis was 9.2±3.7 years, and mean follow-up was 4.0±2.6 years. Twenty-five patients were treated with observation, 38 by injection (27 with steroids and 11 with bone marrow), and 5 by open surgery. Patients who underwent open surgery had relatively larger cyst length, width, and cyst index, and all healed or partially healed at last follow-up. UBC persistence was observed in 29% of diaphyseal and 27.5% of metaphyseal cysts. Of the 19 patients with persistence, 8 were treated with observation, 9 with steroid injection, and 2 with bone marrow injection. Inner wall disruption before injection was performed in 17 patients (24% did not heal), whereas 21 patients did not have inner wall disruption (33% did not heal). Twenty patients received >1 injection. Eleven patients complained of pain at the last visit (8 had a persistent cyst, 2 were partially healed, and 1 had a healed UBC).

Conclusions: Complete healing of humeral UBC is challenging to achieve irrespective of treatment modality. UBCs treated with open surgery tended to heal better. Unhealed cysts were more likely to be associated with pain.

Level Of Evidence: Level III-a retrospective comparative study.
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http://dx.doi.org/10.1097/BPO.0000000000000462DOI Listing
June 2016

Morquio A syndrome: diagnosis and current and future therapies.

Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:141-51

Morquio A syndrome is an autosomal recessive disorder, one of 50 lysosomal storage diseases (LSDs), and is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Deficiency of this enzyme causes specific glycosaminoglycan (GAG) accumulation: keratan sulfate (KS) and chondroitin-6-sulfate (C6S). The majority of KS is produced in the cartilage, therefore, the undegraded substrates accumulate mainly in cartilage and in its extracelluar matrix (ECM), causing direct leads to direct impact on cartilage and bone development and leading to the resultant systemic skeletal spondyloepiphyseal dysplasia. Chondrogenesis ,the earliest phase of skeletal formation that leads to cartilage and bone formation is controlled by cellular interactions with the ECM, growth and differentiation factors and other molecules that affect signaling pathways and transcription factors in a temporal-spatial manner. In Morquio A patients, in early childhood or even at birth, the cartilage is disrupted presumably as a result of abnormal chondrogenesis and/ or endochondral ossification. The unique clinical features are characterized by a marked short stature, odontoid hypoplasia, protrusion of the chest, kyphoscoliosis, platyspondyly, coxa valga, abnormal gait, and laxity of joints. In spite of many descriptions of the unique clinical manifestations, diagnosis delay still occurs. The pathogenesis of systemic skeletal dysplasia in Morquio A syndrome remains an enigmatic challenge. In this review article, screening, diagnosis, pathogenesis and current and future therapies of Morquio A are discussed.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259875PMC
September 2014

Orthopedic management of the extremities in patients with Morquio A syndrome.

J Child Orthop 2014 Aug 8;8(4):295-304. Epub 2014 Jul 8.

Department of Orthopaedic Surgery and Sports Medicine, Seattle Children's Hospital, University of Washington, Seattle, WA, USA,

Background: Musculoskeletal involvement in Morquio A syndrome (mucopolysaccharidosis IVA; MPS IVA) contributes significantly to morbidity and mortality. While the spinal manifestations of the disorder have received considerable attention in the literature, there have been few reported studies to date to guide the management of the orthopedic problems associated with the lower and upper extremities.

Purpose: The objective was to develop recommendations for the management of the extremities in patients with Morquio A syndrome.

Methods: A group of specialists in orthopedics, pediatrics and genetics with experience in the management of Morquio A patients convened to review and discuss current clinical practices and to develop preliminary recommendations. Evidence from the literature was retrieved. Recommendations were further refined until consensus was reached.

Results And Conclusions: This present article provides a detailed review and discussion of the lower and upper extremity deformities in Morquio A syndrome and presents recommendations for the assessment and treatment of these complications. Key issues, including the importance of early diagnosis and the implications of medical therapy, are also addressed. The recommendations herein represent an attempt to develop a uniform and practical approach to managing patients with Morquio A syndrome and improving their outcomes.
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http://dx.doi.org/10.1007/s11832-014-0601-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4128951PMC
August 2014

Cervicothoracic myelopathy in children with Morquio syndrome A: a report of 4 cases.

J Pediatr Orthop 2014 Mar;34(2):223-8

Department of Orthopaedic Surgery, Alfred I duPont Hospital for Children, Wilmington, DE.

Background: Craniovertebral junction anomalies and C1-C2 instability resulting in myelopathy have been well described in the literature on mucopolysaccharidosis IV (MPS-IV). Spinal involvement in MPS-IV patients, with neurological impairment, other than atlanto-axial instability and thoracolumbar kyphosis, has been scarcely mentioned in the literature.

Methods: Retrospective clinical and radiologic review of the medical records and imaging studies of 4 individuals with Morquio A syndrome, who had undergone decompression and fusion of the cervicothoracic spine for myelopathy secondary to cervicothoracic stenosis between 1990 and 2009. Data regarding the presence of kyphosis at the cervicothoracic and upper thoracic spine, and neurological symptoms and signs were obtained.

Results: There were 3 girls and 1 boy with an average age of 5 years and 11 months at presentation with neurological symptoms. Half of the patients had previously undergone occipitocervical fusion for atlanto-axial instability, whereas the other half were noted to have spinal cord compression at both the upper cervical and cervicothoracic regions, and underwent decompression and fusion at both levels concomitantly. All patients showed postoperative neurological improvement. All patients presented with the classical Morquio syndrome vertebral morphology. Cervicothoracic kyphosis was found in all of our patients in a varying severity (10 to 35 degrees). Levels of stenosis were similar in 3 patients, C7-T2; and occurred at a lower spinal level, T1-T4, in the remaining patient. Posterior disk bulging and thecal sac indentation were found in all 4 patients.

Conclusions: Neurological problems secondary to progressive kyphosis and stenosis at the cervicothoracic and upper thoracic spine are seen in children with Morquio syndrome. Early detection with a careful neurological assessment, whole spine MR imaging, and appropriate surgical treatment can prevent permanent neurological sequelae.
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http://dx.doi.org/10.1097/BPO.0000000000000074DOI Listing
March 2014

Malignant soft tissue tumors in children.

Authors:
Mihir M Thacker

Orthop Clin North Am 2013 Oct;44(4):657-67

Department of Orthopedic Surgery, Nemours - Alfred I duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA. Electronic address:

Soft tissue masses are frequently seen in children. Although most are benign or reactive, soft tissue sarcomas (STS)-both rhabdomyosarcoma (most common) and non-rhabdo STS, do occur in the extremities. Appropriate evaluation of extremity soft tissue tumors often includes a biopsy as the clinical and imaging features may not be enough to establish a definitive diagnosis. Much needs to be done for improving the treatment of these rare but often devastating sarcomas. Given the small numbers of these cases seen at various centers, collaborative efforts should be made to further our understanding and improve the management of these challenging cases.
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http://dx.doi.org/10.1016/j.ocl.2013.07.002DOI Listing
October 2013

Correction of lower extremity angular deformities in skeletal dysplasia with hemiepiphysiodesis: a preliminary report.

J Pediatr Orthop 2014 Apr-May;34(3):336-45

*Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE †Benha Medical School, Benha, Egypt ‡Department of Orthopaedic Surgery, Clinical Hospital Centre Zagreb, School of Medicine, University of Zagreb, Zagreb, Croatia.

Background: Lower extremity angular deformities are common in children with skeletal dysplasia and can be treated with various surgical options. Both acute correction by osteotomy with internal fixation and gradual correction by external fixation have been used with acceptable results. Recently, the Guided Growth concept using temporary hemiepiphysiodesis for correction of angular deformities in the growing child has been proposed. This study presents the results of temporary hemiepiphysiodesis using eight-Plates and medial malleolus transphyseal screws in children with skeletal dysplasia with lower extremity angular deformities.

Methods: Twenty-nine patients (50 lower extremities) with skeletal dysplasia of different types were treated for varus or valgus deformities at 2 centers. The mean age at the time of hemiepiphysiodesis was 10±2.9 years. A total of 66 eight-Plates and 12 medial malleolus screws were used. The average follow-up time between the index surgery and the latest follow-up with the eight-Plate in was 25±13.4 months. Erect long-standing anteroposterior and lateral view radiographs were obtained for deformity planning before the procedure. Angular deformities on radiograph were evaluated by mechanical axis deviation, mechanical lateral distal femoral angle, medial proximal tibial angle, and lateral distal tibial angle. Mechanical axis deviation was also expressed as a percentage to one half of the width of the tibial plateau, and the magnitude of the deformity was classified by determining the zones through which the mechanical axis of the lower extremity passed. Four zones were determined on both the medial and lateral side of the knee and the zones were labeled 1, 2, 3, and 4, corresponding to the severity of the deformity. A positive value was assigned for valgus alignment and a negative for varus alignment.

Results: Patients were analyzed in valgus and varus groups. There was correction in 34 of 38 valgus legs and 7 of 12 varus legs. In the valgus group, the mean preoperative and postoperative mechanical lateral distal femoral angles were 82.1±3.7 and 91.1±4.9 degrees, respectively (P<0.001). The mean preoperative and postoperative medial proximal tibial angles were 98.5±8 and 87.8±7.1 degrees, respectively (P<0.001). Six patients with bilateral ankle valgus deformities (12 ankles) underwent single-screw medial malleolus hemiepiphysiodesis. The mean preoperative and postoperative lateral distal tibial angles were 73.9±8.7 and 86.1±6.8 degrees, respectively (P<0.001). The numbers of plates in each anatomic location were not enough to make statistical conclusions in varus legs. Four patients in the valgus group and 3 patients in the varus group did not benefit from the procedure. Mechanical axes were in zone 2 or over in 94% of the legs preoperatively, whereas postoperatively, only 23% of the legs had mechanical axes in zone 2 or over in varus and valgus groups.

Conclusions: Growth modulation with an eight-Plate is a relatively simple surgery and has low risk of mechanical failure or physeal damage. It can be performed in very young patients, which is an important advantage in skeletal dysplasia. Screw purchase is reliable even in the abnormal epiphysis and metaphysis. Our results show that Guided Growth using eight-Plates in skeletal dysplasia is safe and effective.

Level Of Evidence: Level IV.
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http://dx.doi.org/10.1097/BPO.0000000000000089DOI Listing
May 2015

Benign soft tissue tumors in children.

Authors:
Mihir M Thacker

Orthop Clin North Am 2013 Jul 25;44(3):433-44, xi. Epub 2013 May 25.

Department of Orthopedic Surgery, Nemours-Alfred I duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA.

Soft tissue masses in children are common, yet can pose a diagnostic dilemma for the orthopedic surgeon who is asked to evaluate them. Although most lesions are dysplastic or benign, some soft tissue sarcomas are seen in the pediatric population. An understanding of the clinical presentation and imaging findings can guide the surgeon decide on the need for a biopsy and formulate an appropriate treatment plan.
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http://dx.doi.org/10.1016/j.ocl.2013.05.001DOI Listing
July 2013

Upper cervical fusion in children with Morquio syndrome: intermediate to long-term results.

J Bone Joint Surg Am 2013 Jul;95(13):1228-34

Department of Orthopaedic Surgery, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA.

Background: Paraplegia or death secondary to upper cervical spine instability and spinal cord compression are known consequences of Morquio syndrome. Decompression and fusion of the upper cervical spine are indicated to treat spinal cord compression. The purpose of this study was to report the intermediate to long-term results of upper cervical spine fusion in children with Morquio syndrome.

Methods: Twenty patients (nine female and eleven male) with Morquio syndrome who underwent upper cervical spine fusion at a mean age of sixty-three months were retrospectively analyzed with use of hospital records. Radiographic and clinical results were reported.

Results: The average follow-up period was eight years and ten months. Fusion was achieved in all patients except one; this patient underwent a revision with transarticular C1-C2 screw fixation. Seven patients developed symptomatic instability below the fusion mass that required extension of fusion to lower levels at a mean of ninety-one months after the initial operation. Two patients required decompression and fusion of a site other than the upper cervical spine. Asymptomatic cervicothoracic and thoracolumbar kyphosis was prevalent among our patients. All patients were neurologically stable at the time of the latest follow-up visit.

Conclusions: Upper cervical spine fusion provides reliable fusion and a stable neural outcome in patients with Morquio syndrome. However, distal junctional instability is a major problem at long-term follow-up. Kyphotic deformity of the cervicothoracic and thoracolumbar junction may be present in a large number of patients with Morquio syndrome and evaluation for spinal stenosis at these levels should also be considered.
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http://dx.doi.org/10.2106/JBJS.J.01135DOI Listing
July 2013

Orthopedic manifestations and implications for individuals with Costello syndrome.

Am J Med Genet A 2013 Aug 27;161A(8):1940-9. Epub 2013 Jun 27.

Genetic Counseling Program, Arcadia University, Glenside, PA, USA.

Costello syndrome is a rare genetic condition caused by heterozygous alterations in HRAS and characterized by multi-system abnormalities. Individuals with Costello syndrome usually present with severe feeding difficulties in infancy, short stature, coarse facial features, increased tumor risks, cardiac and neurological complications, intellectual disability and orthopedic complications. This study further defines the orthopedic manifestations affecting individuals with Costello syndrome. We studied 43 participants and performed medical records review, clinical examinations and orthopedic inquiry forms. In 23 participants, hip and or spinal imaging assessments were completed. Serial radiographs were analyzed when available. A total of 25 orthopedic manifestations were identified. Ten manifestations were seen in the majority of the participants: hypotonia (87%), ligamentous laxity (85%), scoliosis (63%), kyphosis (58%), characteristic hand deformities (85%), ulnar deviation of the wrist (63%), elbow (55%) and shoulder contractures (65%), tight Achilles tendon (73%), and pes planus (53%). Other characteristics of special note were hip dysplasia (45%), foot deformities requiring surgical intervention (38%) and osteopenia/osteoporosis (47%). We also studied the development of the hips and spine. Uni- or bilateral hip dysplasia was congenital in some, while it developed throughout childhood in others. Spinal involvement included scoliosis, kyphosis, lordosis, and curvature reversal (thoracic lordosis and lumbar kyphosis). Based on these findings, we recommend routine referral to an orthopedic surgeon as well as instituting screening protocols for hips and spine for individuals with Costello syndrome.
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http://dx.doi.org/10.1002/ajmg.a.36047DOI Listing
August 2013

High failure rate of the Pavlik harness in dislocated hips: is it bilaterality?

J Pediatr Orthop 2013 Jul-Aug;33(5):530-5

Department of Orthopedics, Nemours Children's Clinic, Wilmington, DE, USA.

Background: The purpose of this study was to evaluate the efficacy of Pavlik harness treatment in patients with bilaterally dislocated Graf type IV hips and compare them to cases with unilaterally dislocated hips.

Methods: Twenty-one patients (42 hips) who presented with bilaterally dislocated hips with no prior treatment were studied. The comparison group consisted of 33 patients (33 hips) with unilateral hip dislocation treated with the same protocol. Successful treatment was defined as relocation of the hips within 3 weeks of Pavlik harness application.

Results: Twelve of 21 patients (57%) in the bilateral group (6 failed bilaterally, 6 unilaterally) and 18/33 patients (54.5%) in the unilateral group failed harness treatment.

Conclusions: The use of the Pavlik harness in dislocated hips is associated with a high failure rate. Patients presenting with bilaterally dislocated hips however, are at no greater risk for failure than patients presenting with unilateral hip dislocation.

Level Of Evidence: Level III.
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http://dx.doi.org/10.1097/BPO.0b013e318287ffc6DOI Listing
February 2014

Current and emerging treatments and surgical interventions for Morquio A syndrome: a review.

Res Rep Endocr Disord 2012 Dec;2012(2):65-77

Department of Pediatrics, Gifu University, Gifu, Japan.

Patients with mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) have accumulation of the glycosaminoglycans, keratan sulfate, and chondroitin-6-sulfate, in bone and cartilage, causing systemic spondyloepiphyseal dysplasia. Features include lumbar gibbus, pectus carinatum, faring of the rib cage, marked short stature, cervical instability and stenosis, kyphoscoliosis, genu valgum, and laxity of joints. Generally, MPS IVA patients are wheelchair-bound as teenagers and do not survive beyond the second or third decade of life as a result of severe bone dysplasia, causing restrictive lung disease and airway narrowing, increasing potential for pneumonia and apnea; stenosis and instability of the upper cervical region; high risk during anesthesia administration due to narrowed airway as well as thoracoabdominal dysfunction; and surgical complications. Patients often need multiple surgical procedures, including cervical decompression and fusion, hip reconstruction and replacement, and femoral or tibial osteotomy, throughout their lifetime. Current measures to intervene in disease progression are largely palliative, and improved therapies are urgently needed. A clinical trial for enzyme replacement therapy (ERT) and an investigational trial for hematopoietic stem cell transplantation (HSCT) are underway. Whether sufficient enzyme will be delivered effectively to bone, especially cartilage (avascular region) to prevent the devastating skeletal dysplasias remains unclear. This review provides an overview of historical aspects of studies on MPS IVA, including clinical manifestations and pathogenesis of MPS IVA, orthopedic surgical interventions, and anesthetic care. It also describes perspectives on potential ERT, HSCT, and gene therapy.
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http://dx.doi.org/10.2147/RRED.S37278DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4020877PMC
December 2012

Gait pattern and lower extremity alignment in children with Morquio syndrome.

J Pediatr Orthop B 2013 Jan;22(1):59-62

Department of Orthopaedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware 19899, USA.

The gait in children with Morquio syndrome (MPS IV) has not been previously described. We reviewed the charts, gait analysis reports, and radiographs of nine children with no previous lower extremity surgery. Children with MPS IV had a slower walking speed, reduced cadence, and reduced stride length as compared with normal (P<0.05). There was increased knee flexion, genu valgus, and external tibial torsion during stance (P<0.05). Kinetics showed that knee varus moment was increased (P<0.05). There was a strong correlation between genu valgus measured on gait analysis and standing radiographs (r=0.89).
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http://dx.doi.org/10.1097/BPB.0b013e32835a0e6dDOI Listing
January 2013

The lower extremity in Morquio syndrome.

J Pediatr Orthop 2012 Jul-Aug;32(5):534-40

Department of Orthopaedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.

Background: The modalities and results of surgical intervention in the lower extremity in children with Morquio syndrome type A [mucopolysaccharidosis-IV (MPS-IVA)] have not been well described. The aims of this study are to define the lower extremity deformities, and describe the results of intervention in MPS-IVA patients.

Methods: Retrospective chart and radiograph review of 23 MPS-IVA patients with a minimum follow-up of >2 years. Patients were divided into no intervention and surgical groups. Demographic data, surgical details, clinical results, and complications were recorded. Standard lower extremity radiographic measurements made on standing radiographs at initial presentation, preoperatively (in surgical group), and at the final follow-up were used to study the deformities and effects of hip, knee, and ankle surgery. Descriptive statistics were performed.

Results: There were 11 boys and 12 girls. The average age at presentation was 6.8±3.4 years and at the last visit was 13.5±5 years with a mean follow-up of 6.7±3.7 years. Progressive hip subluxation, genu valgum, and ankle valgus were observed in all patients without intervention. Twenty patients had a total of 159 lower extremity surgical procedures (average, 8 procedures per patient). There were 61 hip, 78 knee, and 20 ankle procedures. Surgery resulted in improvement of the center edge angle, femoral head coverage, lateral distal femoral angle, medial proximal tibial angle, tibiofemoral angle, and lateral distal tibial angle. Mechanical axis of the lower extremities improved after intervention. Six patients (12 hips) had recurrence of hip subluxation after acetabular osteotomies and/or femoral varus derotation osteotomy, and 8 patients (16 knees) had postoperative genu valgum recurrence requiring subsequent intervention. There was no recurrent hip subluxation after shelf acetabuloplasty.

Conclusions: Progressive hip subluxation, genu valgum, and ankle valgus were seen and often needed surgery. After shelf acetabuloplasty and varus derotation osteotomy, there was no recurrent hip subluxation. Recurrence after genu valgum correction was common.

Level Of Evidence: Level IV, therapeutic case series.
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http://dx.doi.org/10.1097/BPO.0b013e318259fe57DOI Listing
November 2012
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