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Children
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Orthopedic Disorders in Syndromes
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Orthopedic Disorders in Syndromes

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Orthopedics".

Deadline for manuscript submissions: closed (25 April 2022) | Viewed by 24939

Special Issue Editors

Prof. Dr. Maurizio de Pellegrin

E-Mail Website
Guest Editor
Pediatric Orthopedic and Traumatology Unit, San Raffaele Hospital, Vita-Salute University San Raffaele, 20132 Milan, Italy
Interests: pediatric orthopedics; DDH; foot; rare diseases; syndromes; congenital malformations; hip ultrasound; traumatology
Prof. Dr. William.G. Mackenzie

E-Mail Website
Guest Editor
Nemours/AI duPont Hospital for Children, Wilmington, DE 19803, USA
Interests: skeletal dysplasia; limb length discrepancy; neuromuscular disorders; spinal deformities

Special Issue Information

Dear Colleagues,

This issue will include papers on the evaluation and management of musculoskeletal disorders associated with syndromes excluding classical skeletal congenital diseases such as osteochondrodysplasias. Syndromes often have multidisciplinary medical problems, as well as musculoskeletal abnormalities. When the nervous, cardiac, or renal systems are affected, a quick intervention is often required. The management of orthopedic problems is often overlooked or considered “less important”. However, spine deformities and gait alterations associated with lower limb and foot disorders may be the main problems for these patients. The literature is incomplete regarding orthopedic treatment in these rare diseases, so we have decided to propose this topic. We hope that colleagues could contribute papers that will contribute to the literature and improve the management of these diseases.

The syndromes of interest are listed below. Some have a high incidence, while others are very rare, but all are of great importance. The aim of this work is to allow a multidisciplinary approach improving the knowledge of the caregivers involved.

Prof. Dr. Maurizio de Pellegrin
Prof. Dr. William.G. Mackenzie
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • syndromes
  • orthopedic disorders
  • syndromic
  • chromosomopathies
  • spine deformities in syndromes
  • Mucopolysaccharidosis I-VI
  • autism
  • Bardet–Biedl syndrome
  • Beckwith–Wiedemann syndrome
  • Ehlers–Danlos syndrome
  • Marfan syndrome
  • Morquio
  • Noonan syndrome
  • Prader–Willi syndrome
  • Silver–Russell syndrome
  • Sotos syndrome
  • Trisomy 21

Published Papers (6 papers)

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Research

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11 pages, 886 KiB  
Article
The Management of Toe Walking in Children with Autism Spectrum Disorder: “Cast and Go”
by Francesco Manfredi, Flavia Riefoli, Michele Coviello and Daniela Dibello
Children 2022, 9(10), 1477; https://doi.org/10.3390/children9101477 - 27 Sep 2022
Cited by 1 | Viewed by 3480
Abstract
Background: Toe walking is associated with autism spectrum disorders (ASD). Correction of this “behavior” is a health challenge. The toe walker is affected by the contact refusal with the outside world: touching the ground as little as possible, trying to avoid any contact. [...] Read more.
Background: Toe walking is associated with autism spectrum disorders (ASD). Correction of this “behavior” is a health challenge. The toe walker is affected by the contact refusal with the outside world: touching the ground as little as possible, trying to avoid any contact. A structured equines foot is a possible consequence. Method: We present the “Cast and Go” protocol, used in 22 idiopathic toe walker children with ASD treated from 2015 to 2020. The treatment was performed by a single senior experienced doctor with botulinum injection, ankle casts and rehabilitative therapies. All patients underwent pre- and post-treatment clinical evaluation using ankle dorsiflexion angle and casting number as treatment. We aimed to identify the intervention with the shortest acquisition time for the management of toe walking. Results: Our findings demonstrated the baseline ankle dorsiflexion angle influenced the casting number (p < 0.01) and male patients had a higher baseline ankle dorsiflexion angle than female patients (p < 0.01). No adverse events were observed. Conclusions: These findings suggested that the “Cast and Go” protocol could be a promising, dynamic and effective practice for toe walking disease in ASD patients. Full article
(This article belongs to the Special Issue Orthopedic Disorders in Syndromes)
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16 pages, 4965 KiB  
Article
Guided Growth in Leg Length Discrepancy in Beckwith-Wiedemann Syndrome: A Consecutive Case Series
by Maurizio De Pellegrin, Lorenzo Brogioni, Guy Laskow, Graziano Barera, Roberta Pajno, Sara Osimani, Silvia Russo and Lorenzo Marcucci
Children 2021, 8(12), 1152; https://doi.org/10.3390/children8121152 - 7 Dec 2021
Cited by 2 | Viewed by 7499
Abstract
Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder characterized by overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, predisposition to embryonal tumor, lateralized overgrowth, and leg length discrepancy (LLD), which can affect normal posture and gait. Aim of this study was to evaluate the [...] Read more.
Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder characterized by overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, predisposition to embryonal tumor, lateralized overgrowth, and leg length discrepancy (LLD), which can affect normal posture and gait. Aim of this study was to evaluate the effects of guided growth (temporary epiphysiodesis technique) as LLD management in BWS patients. Between 2007 and 2021, 22 BWS patients (15 F, 7 M) with a mean age of 7.9 years (2.9–14.4) and a mean LLD at first surgery of 3.65 cm (2–10), underwent temporary proximal tibial (PTE) and distal femur epiphysiodesis (DFE). In 18 patients the first surgical procedure was PTE, in one, DFE, and in 3 cases, PTE and DFE at the same time, respectively. Eleven patients reached equality of leg length after a mean follow-up of 7.7 years (3.7–13.0) and mean age of 13.3 years (12.7–27.5); 10 patients underwent 3 surgical procedures, one 7 procedures. Fifteen patients had no complications. No severe complications, infection, articular stiffness, or neuro-vascular lesions occurred in remaining patients; complications included secondary varus or valgus axial deviation in a total of 6 patients, and two screw breakages in two patients. Guided growth as a minimally invasive procedure seems efficient for LLD treatment with low complication rate in BWS patients. Full article
(This article belongs to the Special Issue Orthopedic Disorders in Syndromes)
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12 pages, 1600 KiB  
Article
Radiological Outcomes of Femoral Head Resection in Patients with Cerebral Palsy: A Retrospective Comparative Study of Two Surgical Procedures
by Axel Horsch, Finja Hahne, Maher Ghandour, Hadrian Platzer, Merkur Alimusaj and Cornelia Putz
Children 2021, 8(12), 1105; https://doi.org/10.3390/children8121105 - 1 Dec 2021
Viewed by 2088
Abstract
Background: We conducted this study to compare postoperative radiological outcomes of two surgical procedures (femoral head resection (FHR) and femoral head cap plastic surgery (FCP)) in patients with CP and hip dislocation. Methods: CP patients with Gross Motor Function Classification Score (GMFCS) IV [...] Read more.
Background: We conducted this study to compare postoperative radiological outcomes of two surgical procedures (femoral head resection (FHR) and femoral head cap plastic surgery (FCP)) in patients with CP and hip dislocation. Methods: CP patients with Gross Motor Function Classification Score (GMFCS) IV or V, who underwent either FHR or FCP between 2007 and 2018 at Heidelberg University Hospital in Germany, were included. Most participants underwent postoperative traction in an attempt to prevent telescoping. Besides the above-mentioned objectives, we examined the association between telescoping and spasmolytic use, traction weight, and traction duration. Results: Thirty-eight CP patients were included, of whom 15 (25 hips) underwent FHR and 23 (30 hips) underwent FCP. Heterotopic ossification (grades I, II, and III) occurred in 80% and 83.3% of patients in the FHR and FCP groups, respectively. Telescoping occurred in 18.68 and 31.99% of patients in the FHR and FCP groups, respectively (p = 0.999). Other complications were similar between both groups. Conclusions: The postoperative outcomes of FHR and FCP are similar in terms of telescoping, heterotopic ossification, and complications. Although telescoping was encountered more in the FCP group, no significant difference from the FHR group was found. We noted that the weight of traction could reduce the development of telescoping. Full article
(This article belongs to the Special Issue Orthopedic Disorders in Syndromes)
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10 pages, 1672 KiB  
Article
Effectiveness of Custom-Made Foot Orthoses vs. Heel-Lifts in Children with Calcaneal Apophysitis (Sever’s Disease): A CONSORT-Compliant Randomized Trial
by Javier Alfaro-Santafé, Antonio Gómez-Bernal, Carla Lanuza-Cerzócimo, José-Víctor Alfaro-Santafé, Aitor Pérez-Morcillo and Alejandro-Jesús Almenar-Arasanz
Children 2021, 8(11), 963; https://doi.org/10.3390/children8110963 - 25 Oct 2021
Cited by 1 | Viewed by 4223
Abstract
The aim of the present research was to determine the effectiveness of relieving calcaneal apophysitis pain using “off-the-shelf” heel-lifts and custom-made orthotics. Two intervention modalities were evaluated and compared in a 12-week follow-up trial. Inclusion criteria included 9- to 12-year-old children diagnosed with [...] Read more.
The aim of the present research was to determine the effectiveness of relieving calcaneal apophysitis pain using “off-the-shelf” heel-lifts and custom-made orthotics. Two intervention modalities were evaluated and compared in a 12-week follow-up trial. Inclusion criteria included 9- to 12-year-old children diagnosed with calcaneal apophysitis. Children were randomly stratified into treatment A (custom-made polypropylene foot orthoses) and treatment B (“off-the-shelf” heel-lifts) groups. Treatment effectiveness was measured by algometry and the visual analogical scale (VAS). A total of 208 patients were included. The treatment A group showed an increase in threshold algometry of 53.4% (95% CI 47.1% to 59.7%) and a decrease in VAS of −68.6% (95% CI −74.5% to −62.7%) compared with the treatment B group (p < 0.001). Calcaneal apophysitis pain perception was improved in both groups, but children who used custom-made foot orthoses showed a greater improvement. Full article
(This article belongs to the Special Issue Orthopedic Disorders in Syndromes)
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7 pages, 1892 KiB  
Brief Report
Efficacy of a Tibia Counter Rotator System for the Treatment of Internal Tibial Torsion in Children
by Sungmi Kim, Mitsuyoshi Suzuki, Kei Minowa, Hiroshi Nittono and Toshiaki Shimizu
Children 2022, 9(7), 970; https://doi.org/10.3390/children9070970 - 29 Jun 2022
Cited by 1 | Viewed by 4465
Abstract
Internal tibial torsion is more common in the Asian population than in Western populations. Generally, surgery should be considered for the treatment of severe internal tibial torsion. As an alternative approach, the usefulness of a tibia counter rotator (TCR), a corrective orthosis based [...] Read more.
Internal tibial torsion is more common in the Asian population than in Western populations. Generally, surgery should be considered for the treatment of severe internal tibial torsion. As an alternative approach, the usefulness of a tibia counter rotator (TCR), a corrective orthosis based on the theory of the tibia torsional transformer, has been demonstrated, but the evidence is limited. In the present study, the efficacy and safety of TCR treatment were investigated in pediatric patients with internal tibial torsion. The subjects were 124 pediatric patients with internal tibial torsion who were between 3 and 15 years of age and had no underlying diseases. The severity of tibial intorsion was evaluated by the tibial transmalleolar angle (TMA). A TMA less than 5° was defined as internal tibial torsion, and less than −20° was defined as severe in this study. The median duration of TCR use was 11 (9, 12) (median (IQR: interquartile range)) months, and the treatment completion rate was 94.4% (117/124). The TMA at 12 months from the start of treatment in patients who completed treatment was 5° (0°, 10°) on the right (n = 66) (p < 0.01 vs. pretreatment) and 0° (−5°, 8°) on the left (n = 71) (p < 0.01 vs. pretreatment). The tibial torsional transformer used in this study is effective in the initial treatment of mild to severe internal tibial torsion, with no adverse effects. Although internal tibial torsion is generally expected to resolve spontaneously, TCR treatment may be an effective alternative to surgical therapy in the Asian pediatric population. Full article
(This article belongs to the Special Issue Orthopedic Disorders in Syndromes)
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6 pages, 1805 KiB  
Case Report
Fractures in the Setting of Constriction Band Syndrome: A Case Series of Three Patients with Extremity Fractures at the Site of a Constriction Band
by Yerin Cho, Leeann Qubain, Melissa Esparza, Judson Karlen, Timothy Schaub and Mohan V Belthur
Children 2022, 9(6), 876; https://doi.org/10.3390/children9060876 - 12 Jun 2022
Cited by 1 | Viewed by 2007
Abstract
Constriction band syndrome (CBS) is a rare condition where fibrous bands constrict one or more parts of the fetus with varying manifestations such as autoamputation, acrosyndactyly, and neuropathy. However, isolated extremity fractures in the setting of constriction band syndrome are even more rare, [...] Read more.
Constriction band syndrome (CBS) is a rare condition where fibrous bands constrict one or more parts of the fetus with varying manifestations such as autoamputation, acrosyndactyly, and neuropathy. However, isolated extremity fractures in the setting of constriction band syndrome are even more rare, with only two reported cases in the literature. There are few guidelines on the management of CBS due to small case numbers, the variability of presentation between patients, and the lack of consensus on etiology and pathogenesis. In this small case series, we describe the presentation and management of three patients at our institution with extremity fractures at the site of severe constriction bands with neurologic injuries or vascular compromise. We also review the literature on this topic to provide further context. Intramedullary stabilization of the fracture with a k-wire allowed for soft tissue healing in two of our patients. Full article
(This article belongs to the Special Issue Orthopedic Disorders in Syndromes)
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