Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients.

Oberklaid, Frank; Danks, David M.; Mayne, Valerie; Campbell, P. E.

doi:10.1136/adc.52.10.758

Cited by 137 publications

(80 citation statements)

References 7 publications

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“…Likewise, certain thoracic cage disorders, such as Jeune's syndrome, develop prenatally and have small thoracic cage dimensions and lung volumes at birth. Lungs at autopsies in the past were described as 'hypoplastic', but morphometric analyses are lacking [43]. Recent advances in thoracic cage expansion have increased the survival of these patients, but lung function and diffusion capacities have not been described postoperatively over time in order to discover how much more lung growth can occur.…”

Section: Does the Deformed Spine Grow Like The Normal One? Alain Dimementioning

confidence: 99%

Fusionless procedures for the management of early-onset spine deformities in 2011: What do we know?

Akbarnia

Campbell

Diméglio

et al. 2011

Journal of Children's Orthopaedics

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While attempts to understand them better and treat them more effectively, early-onset deformities have gained great pace in the past few years. Large patient series with long follow-ups that would provide high levels of evidence are still almost non-existent. That there is no safe treatment algorithm defined and agreed upon for this patient population continues to pose a challenge for pediatric spine surgeons. In this review, authors who are well known for their research and experience in the treatment of early-onset scoliosis (EOS) have come together in order to answer those questions which are most frequently asked by other surgeons. The most basic eight questions in this field have been answered succinctly by these authors and a current overview is provided.

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Section: Does the Deformed Spine Grow Like The Normal One? Alain Dimementioning

confidence: 99%

Fusionless procedures for the management of early-onset spine deformities in 2011: What do we know?

Akbarnia

Campbell

Diméglio

et al. 2011

Journal of Children's Orthopaedics

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“…В доступной литературе нет данных о том, что патология печени при СЖ является причиной смерти, однако R. Oberklaid с соавт. предположили, что фиброз паренхимы печени увеличивается пропорционально возрасту пациентов, выживших в первые 2 года жизни [38]. По данным разных авторов, летальность в первые 2 года жизни у больных с СЖ составляет 60−80%.…”

Section: актуальные вопросы педиатрииunclassified

Jeune Syndrome: Case Series Report

Ovsyannikov

Юрьевич²,

Stepanova

et al. 2016

Annals RAMS

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Jeune syndrome (synonym: asphyxiating thoracic dystrophy) is a rare genetically heterogeneous autosomal recessive disease, characterized by the development of generalized osteochondrodysplasia, anomalies of skeletal system with multi-organ involvement. This syndrome is based on mutations of the IFT80, DYNC2H1, WDR19, TTC21B genes localized in the locus of chromosomes 3q25.33, 11q22.3, 4p14, 2q24.3 respectively and mutation in the locus of chromosome 15q13 too. These genes play an important role in functioning of cilia in the mammalian body. These organelles participate in the development of the skeletal and hepatobiliary system, nephrons, retina, and other structures of the body. Thurs Jeune syndrome belongs to the ciliopathies. The article presents modern literature findings on genetics, pathogenesis, its clinical, X-ray presentations and CT patterns, diagnosis and treatment of this rare disease. The article also presents the first Russian case series including 7 patients with this disease. Combinations of such symptoms as narrow bell-shaped thorax, variable limb shortness, respiratory failure, including oxygen dependence, recurrent respiratory infections, and motor development delay in observed patients helped to diagnose Jeune syndrome in all cases.

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“…It is a rare, autosomal recessive disorder with an estimated incidence varying from 1 in 100,000 to 1 in 130,000 live births [2]. The typical characteristic of JATD is an osteochondrodysplasia characterized by a narrow thorax and shortened ribs in association with short-limb dwarfism.…”

Section: Introductionmentioning

confidence: 99%

“…The thoracic dysplasia results in progressive respiratory insufficiency with up to 60-70% of homozygous carriers dying from respiratory failure or chronic pulmonary infections. Despite the skeletal deformity affecting the thoracic cavity, pathologic studies suggest that alveolar and lung growth potential may be normal [2]. Although the clinical manifestations of respiratory insufficiency vary in magnitude from lethal to subclinical forms, comorbid conditions associated with JATD may lead to severe organ dysfunction affecting the kidney, pancreas, liver, and eyes in later years [3].…”

Section: Introductionmentioning

confidence: 99%

Anesthetic Care During Lateral Thoracic Expansion for Asphyxiating Thoracic Dystrophy

2016

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Jeune syndrome or asphyxiating thoracic dystrophy (JATD) is a rare autosomal recessive disorder with an estimated incidence of 1 in 100,000 to 130,000 live births. The typical phenotype of JATD is osteochondrodysplasia (narrow thorax and shorted ribs) in association with short limb dwarfism. The thoracic dysplasia results in respiratory insufficiency, usually requiring tracheostomy and chronic mechanical ventilation beginning in infancy and childhood. Lateral thoracic expansion is one surgical procedure that has been described in an attempt to enlarge the thoracic cage and alleviate the progressive respiratory failure. In addition to respiratory involvement, patients with JATD may have other co-morbid conditions involving the kidneys, pancreas, liver, and eyes. Given the underlying thoracic dysplasia and other associated comorbid conditions, the intraoperative care of such patients can be challenging. We present two patients with JATD who presented for lateral thoracic expansion. Previous reports of the intraoperative care of such patients are reviewed and options for anesthetic care are discussed.

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Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients.

Cited by 137 publications

References 7 publications

Fusionless procedures for the management of early-onset spine deformities in 2011: What do we know?

Fusionless procedures for the management of early-onset spine deformities in 2011: What do we know?

Jeune Syndrome: Case Series Report

Anesthetic Care During Lateral Thoracic Expansion for Asphyxiating Thoracic Dystrophy

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