The Thoracic Asphyxiant Dystrophy and Renal Disease

Herdman, Roger; Langer, Leonard O.

doi:10.1001/archpedi.1968.02100020194014

Cited by 44 publications

(30 citation statements)

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“…The findings in these cases included: hypoplastic nails, gingival hyperplasia and bifid tongue [1 case from Cortina et al, 1979]; overlapping findings of EvC [Brueton et al, 1990]; small abnormal teeth, and postaxial polydactyly of the hands [Casteels et al, 2000]; overgrowth of membranous bone [Edelson et al, 1974]; facial dysmorphism and broad thumbs [Sankar and Phadke, 2006]; microcephaly, preaxial polydactyly of feet and postaxial polydactyly of unilateral hand, lobulation of the tongue and gingiva [Tahernia and Stamps, 1977]; cleft palate and prominent frenula (1st case), and tetralogy of Fallot with polydactyly (2nd case) [2/7 cases from Turkel et al, 1985]. Application of the diagnostic criteria led to the designation of 118 cases (79%) of Jeune syndrome from the original total [Jeune et al, 1955;Herdman and Langer, 1968;Say et al, 1969;Cremlin, 1970;Russell and Chouksey, 1970;Kozlowski and Masel, 1976;Elejalde et al, 1985;Giorgi et al, 1990;Aronson et al, 1999;Tongsong et al, 1999;Poggiani et al, 2000;den Hollander et al, 2001;Kaddoura et al, 2001;Das et al, 2002;Norberg, 2002;Hall et al, 2003;Haycraft et al, 2005;Huang et al, 2008;O'Connor et al, 2008;Phillips and van Aalst, 2008]. Table I provides a summary of the findings of our patients, and the frequency of findings in the 118 cases in the literature.…”

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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“…Constriction of the thoracic cage is associated with recurrent respiratory infections in particular in neonates and infants, and in 60% of cases with lethal respiratory distress 2. Up to 30% of JATD patients also develop end stage renal disease,3 with hepatic fibrosis and retinal involvement reported less frequently 4 5. JATD is a member of the family of skeletal ‘ciliopathies’, disorders associated with dysfunction of primary cilia, classified as one of the six short-rib polydactyly syndrome (SRPS) disorders 6 7.…”

Section: Introductionmentioning

confidence: 99%

Exome sequencing identifiesDYNC2H1mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

et al. 2013

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BackgroundJeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes accompanied by polydactyly, and renal, liver and retinal disease. Mutations in intraflagellar transport (IFT) genes cause JATD, including the IFT dynein-2 motor subunit gene DYNC2H1. Genetic heterogeneity and the large DYNC2H1 gene size have hindered JATD genetic diagnosis.Aims and methodsTo determine the contribution to JATD we screened DYNC2H1 in 71 JATD patients JATD patients combining SNP mapping, Sanger sequencing and exome sequencing.Results and conclusionsWe detected 34 DYNC2H1 mutations in 29/71 (41%) patients from 19/57 families (33%), showing it as a major cause of JATD especially in Northern European patients. This included 13 early protein termination mutations (nonsense/frameshift, deletion, splice site) but no patients carried these in combination, suggesting the human phenotype is at least partly hypomorphic. In addition, 21 missense mutations were distributed across DYNC2H1 and these showed some clustering to functional domains, especially the ATP motor domain. DYNC2H1 patients largely lacked significant extra-skeletal involvement, demonstrating an important genotype–phenotype correlation in JATD. Significant variability exists in the course and severity of the thoracic phenotype, both between affected siblings with identical DYNC2H1 alleles and among individuals with different alleles, which suggests the DYNC2H1 phenotype might be subject to modifier alleles, non-genetic or epigenetic factors. Assessment of fibroblasts from patients showed accumulation of anterograde IFT proteins in the ciliary tips, confirming defects similar to patients with other retrograde IFT machinery mutations, which may be of undervalued potential for diagnostic purposes.

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“…These are infre quently associated with abnormalities of other organs, including the kidneys [1,2], The association of some osteochondrodvsplasias (one of the five major groups of skeletal dysplasias) with progressive tubulointerstitial ne phropathy is well known, such as asphyxiating thoracic dysplasia (Jeune) and acrodvsplasia with retinitis pigmen tosa (Saldino-Mainzcr) [3,4], Recently, the association of spondylometaphyseal [5] and spondyloepiphyseal [6] dys plasias with focal glomerular sclerosis (FGS) accompa nied by nephrotic syndrome and renal failure were recog nized. A suggestion was made that the association of spondyloepiphyseal dysplasia (SED) with FGS may be a distinct entity [7].…”

Section: Introductionmentioning

confidence: 99%

Focal Glomerular Sclerosis and Nephrotic Syndrome in Spondyloepiphyseal Dysplasia

Bogdanović

Komar²,

Cvorić³

et al. 1994

Nephron

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The association of a spondyloepiphyseal dysplasia and disproportionate short stature with focal glomerular sclerosis is reported in two girls. Renal disease manifested by proteinuria at the age of 2.5 and 11 years, leading to treatment-resistant nephrotic syndrome over 15 and 45 months, respectively. One patient went into end-stage renal failure shortly after nephrotic syndrome developed, the other died from sepsis. The association of spondyloepiphyseal dysplasia and focal glomerular sclerosis with nephrotic syndrome may represent a distinct disease entity.

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The Thoracic Asphyxiant Dystrophy and Renal Disease

Cited by 44 publications

References 4 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)

Exome sequencing identifiesDYNC2H1mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Focal Glomerular Sclerosis and Nephrotic Syndrome in Spondyloepiphyseal Dysplasia

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