Retraction Note: Rare causes of scoliosis and spine deformity: experience and particular features

Soultanis, Konstantinos; Payatakes, Alexander; Chouliaras, Vasileios; Mandellos, G; Pyrovolou, N.; Pliarchopoulou, Fani; Soucacos, Panayotis N.

doi:10.1186/s13013-018-0153-3

Cited by 5 publications

(5 citation statements)

References 1 publication

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“…Like most joint abnormalities in AMC, the spine abnormalities are deformations—the underlying structures were normally formed, then misshapen during intrauterine development (Hall, ). These “at‐birth” or essential spinal deformities may include “C”‐shaped thoracolumbar scoliosis with or without associated hyperlordosis (Greggi et al, ; Herron, Westin, & Dawson, ; Soultanis et al, ). Babies presenting with essential spine deformities generally have severe upper and lower limbs contractures, fibro‐fatty degeneration of the muscles and a more guarded potential for independent daily living and ambulation (Komolkin et al, ).…”

Section: Resultsmentioning

confidence: 99%

International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita

Dahan‐Oliel

Cachecho

Barnes

et al. 2019

American J of Med Genetics Pt C

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Arthrogryposis multiplex congenita (AMC) has been described and defined in thousands of articles, but the terminology used has been inconsistent in clinical and research communities. A definition of AMC was recently developed using a modified Delphi consensus method involving 25 experts in the field of AMC from 8 countries. Participants included health care professionals, researchers, and individuals with AMC. An annotation of the definition provides more in‐depth explanations of the different sentences of the AMC definition and is useful to complement the proposed definition. The aim of this study was to provide an annotation of the proposed consensus‐based AMC definition. For the annotation process, 17 experts in AMC representing 10 disciplines across 7 countries participated. A paragraph was developed for each sentence of the definition using an iterative process involving multiple authors with varied and complementary expertise, ensuring all points of view were taken into consideration. The annotated definition provides an overview of the different topics related to AMC and is intended for all stakeholders, including youth and adults with AMC, their families, and clinicians and researchers, with the hopes of unifying the understanding of AMC in the international community.

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Section: Resultsmentioning

confidence: 99%

International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita

Dahan‐Oliel

Cachecho

Barnes

et al. 2019

American J of Med Genetics Pt C

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“…Spinal deformities were widely reported in many rare malformation and neuromuscular diseases like: Rett syndrome, facioscapulohumeral muscular dystrophy and Noonan syndrome. 4 Literature suggests that in these rare causes of scoliosis and spine deformity surgical treatment is often necessary to prevent the evolution of the deformity, restore the coronal and sagittal balance and allow a better quality of life. 4e6 KS is a rare condition with a prevalence of less than one in a million cases, characterized by the core clinical phenotype of mostly moderate to severe developmental delay/intellectual disability, (childhood) hypotonia and distinct facial features, comprising microcephaly, synophrys, unusual shape of the eyebrows, midface hypoplasia, protruding tongue and prognathism.…”

Section: Discussionmentioning

confidence: 99%

“…2 KS is characterized by moderate to severe developmental delay/intellectual disability, distinct facial features (shape of the eyebrows, midface hypoplasia) and (childhood) hypotonia. 3,4 Motor development in particular is impaired by childhood hypotonia, but almost all individuals achieve independent walking within 2e7 years. 3 Physical therapy is recommended to maximize mobility and to reduce the risk for later-onset orthopedic complications.…”

Section: Introductionmentioning

confidence: 99%

Posterior thoracolumbar fusion in a patient with Kleefstra Syndrome related scoliosis: The first case reported

Perna

Bocchi

Proietti

2020

Journal of Clinical Orthopaedics and Trauma

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Spine deformities could be considered a possible manifestation of the childhood hypotonia, typical feature of Kleefstra Syndrome (KS). There is a paucity of literature describing posterior spinal fusion in the Kleefstra syndrome patient. For patients who develop severe scoliotic curve, bracing is often ineffective and surgery is recommended. We report the first corrective surgery for scoliosis in one patient with KS.We describe a case of 13-year-old female with severe developmental scoliosis in KS. Preoperative examination showed a thoracolumbar scoliosis with left convex thoracic curve (T3-T9, 97 ) and right convex thoracolumbar curve (T9-L3, 88 ). Posterior correction, pedicle screw fixation and bone graft fusion T3-L5 was performed. Postoperatively, the thoracic curve was corrected to 33 while the thoracolumbar one to 26 and better standing posture was obtained. Six month follow-up images showed no loosening of the hardware. The patient is still in our follow-up program.Scoliosis seems to be a rare evenience of the severe hypotonia of patients with KS. We report the first case of scoliosis in KS treated successfully with surgery. Corrective surgery for spinal deformity, such as scoliosis, could help in posture and improve the quality of life especially in complicated patients such as syndromic ones.

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“…Congenital kyphoscoliosis includes those cases due to identifiable vertebral abnormalities such as hemivertebrae, butterfly vertebrae and unsegmented vertebral bar, causing mechanical deviation of the spinal curvature. 3 Though uncommon, kyphoscoliosis can also be secondary to congenital sternal anomalies. 1 Significant deformity in such cases would be expected not at birth or in infancy, but rather during the period of rapid sternal and vertebral growth (particularly around puberty), as is seen in our case.…”

Section: Discussionmentioning

confidence: 99%

Isolated sternal hypoplasia: a rare cause of kyphoscoliosis

et al. 2019

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In most cases, kyphoscoliosis is idiopathic. However, this is a diagnosis of exclusion and can be made only if no cause can be identified. Kyphoscoliosis can occur due to various causes. Isolated sternal anomalies may also cause kyphoscoliosis secondary to the bony deformity though this has not previously been reported in literature. We have reported a case of kyphoscoliosis secondary to isolated sternal hypoplasia with complete absence of bony and cartilaginous elements of the body and xiphoid process of the sternum without any associated deformities of mediastinal structures, lung parenchyma or soft tissues in a young male patient. Careful evaluation of patients with kyphoscoliosis can ensure timely diagnosis of unusual and potentially treatable causes for the same such as sternal anomalies. Addition of lateral chest radiographs to the imaging protocol for evaluation of kyphoscoliosis can play a major role in timely diagnosis of such cases.

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Retraction Note: Rare causes of scoliosis and spine deformity: experience and particular features

Cited by 5 publications

References 1 publication

International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita

International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita

Posterior thoracolumbar fusion in a patient with Kleefstra Syndrome related scoliosis: The first case reported

Isolated sternal hypoplasia: a rare cause of kyphoscoliosis

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