The wide spectrum of the asphyxiating thoracic dysplasia

Cortina, H.; Beltran, J. Benitez; Olagüe, R.; Ceres, L.; Alonso, Alvaro; Lanuza, Á. Cisneros

doi:10.1007/bf00973998

Cited by 37 publications

(29 citation statements)

References 10 publications

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“…We reviewed 149 cases from 61 published articles, ascertained from our literature search, as described in the Methods Section. There were 22 cases (14.8%) from 11 articles that were excluded because they lacked a clinical summary or description of physical and radiological features, or if a prenatal diagnosis lacked postnatal confirmation [Allen et al, 1979; 1 patient from Pirnar and Neuhauser, 1966;Cortina et al, 1979;Hopper et al, 1979;Todd et al, 1986;Sarimurat et al, 1998;Sharoni et al, 1998;Davis et al, 2004;Leroy et al, 2010; two cases from Weber, 2005;Tuysuz et al, 2009]. We also excluded nine cases (6%) with atypical findings of Jeune syndrome that indicated the diagnosis of another syndrome, such as Ellis-van Creveld (EvC) syndrome, short-rib polydactyly (SRP) syndrome, type III, or one of the oral-facial-digital (OFD) syndromes.…”

Section: Resultsmentioning

confidence: 99%

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)

Keppler‐Noreuil

Adam

Welch

et al. 2011

American J of Med Genetics Pt A

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Jeune syndrome, originally described as asphyxiating thoracic dystrophy by Jeune et al. [Jeune et al. (1955); Arch Fr Pediatr 12:886-891], is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities, and variable renal, hepatic, pancreatic, and retinal complications. We present eight patients, including two brothers with Jeune syndrome, and an extensive review of 118 cases in the published literature with the purposes of: (1) defining the clinical and radiological diagnostic criteria for Jeune syndrome; (2) comparing our cases to those in the literature meeting the documented clinical and radiological findings of Jeune syndrome, in order to: (3) provide an accurate clinical characterization of Jeune syndrome with frequency of associated complications and outcome data. In order to estimate the frequency of phenotypic abnormalities in Jeune syndrome as precisely as possible, we did not include reports in the literature with incomplete descriptions of the radiologic and clinical findings, nor those reports having additional findings overlapping with other syndromes. We found that the occurrence of renal, hepatic, and ophthalmologic complications is variable; does not correlate with severity of the skeletal phenotype; nor is it predictable even with the presence of a well-defined skeletal phenotype, as in this study. Based upon these cases with Jeune syndrome, renal and hepatic abnormalities occur in approximately 30% of cases, with renal failure occurring in 38% of those with kidney involvement. Eye abnormalities are reported in 15%, but it is unclear whether this represents under-ascertainment. There is a 1.2:1 ratio between living and deceased patients; a respiratory cause of death is most common, occurring almost exclusively in those less than 2 years of age, and a renal etiology accounts for all deaths between the ages of 3-10 years of age. There is a paucity of affected individuals reported in the literature greater than age 20 years, and a lack of longitudinal data to obtain accurate data on morbidity and mortality of Jeune syndrome at older ages. This study provides a well-defined group of patients with Jeune syndrome with delineation of the frequency of associated findings, which may form a basis for current and future genotype-phenotype studies.

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Section: Resultsmentioning

confidence: 99%

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)

Keppler‐Noreuil

Adam

Welch

et al. 2011

American J of Med Genetics Pt A

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“…Epiphysis of femur heads can show early ossification. Vertebra and skull bones are not effected (6).…”

Section: Discussionmentioning

confidence: 99%

“…Children with this syndrome may encounter renal dysplasia (6). Mortality depends on cystic changes and diffuses interstitial fibrosis (13)(14)(15)(16)(17).…”

Section: Discussionmentioning

confidence: 99%

An early breathing disorder in a newborn: Jeune syndrome

et al. 2015

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“…Сердце бывает увеличенным, шарообразным из-за гипертрофии правого желудочка в результате ЛГ [11,12,15]. Рекомендуется проводить допплеровское эхокардиографическое иссле-дование с измерением систолического давления в легоч-ной артерии для исключения ЛГ.…”

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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The wide spectrum of the asphyxiating thoracic dysplasia

Cited by 37 publications

References 10 publications

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)

An early breathing disorder in a newborn: Jeune syndrome

Jeune Syndrome: Case Series Report

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