Asphyxiating Thoracic Dystrophy of the Newborn

Pirnar, T; Neuhauser, Edward B. D.

doi:10.2214/ajr.98.2.358

Cited by 58 publications

(25 citation statements)

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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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“…In Ellis van Creveld syndrome the appearance of the pelvis is indistinguishable but the involvement of the thorax is less pronounced 8,9 .…”

Section: Discussionmentioning

confidence: 99%

A Case Report on Jeune Syndrome in a Three Month Old Infant

Naher¹,

Saha²,

Naima³

2016

Bangladesh J Child Health

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“…Mental retardation has occasionally been observed [Schmidt et al, 1972;Reid et al, 19861. The phenotypic heterogeneity of this disorder has been the subject of recent reviews [Reid et al, 1985;Reid et al, 19861 emphasizing the multisystem nature of the disorder.…”

Section: Discussionmentioning

confidence: 99%

“…Bile duct proliferation with portal fibrosis apparently resulted from maldevelopment or metabolic defects; however, the relationship to cholestasis is not clear as hyperbilirubinemia was transient. Although clinical liver dysfunction (Table I) has not been previously recognized as a component of this disorder, prolonged neonatal jaundice has been an incidental observation in several patients [Pirnar and Neuhauser, 1966;Russell and Chouksey, 1970;Edelson et al, 19741.…”

Section: Discussionmentioning

confidence: 99%

Direct hyperbilirubinemia and hepatic fibrosis: A new presentation of Jeune syndrome (asphyxiating thoracic dystrophy)

Sj²,

et al. 1987

Am. J. Med. Genet.

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Jeune syndrome (asphyxiating thoracic dystrophy) is an autosomal recessive skeletal dysplasia with multisystem involvement. The disorder is usually considered lethal, with death resulting from respiratory insufficiency during infancy, or from renal failure during childhood. Hepatic dysfunction, diagnosed on the basis of direct hyperbilirubinemia and hepatic fibrosis, led to early diagnosis of Jeune syndrome in a newborn infant. Review of the literature indicates that the specific pathologic lesion (biliary dysgenesis with portal fibrosis and bile duct proliferation) has been observed as an incidental finding at autopsy, but that clinically significant liver dysfunction has not been appreciated as an important manifestation in this disorder. The characteristic histopathologic abnormality has been present in every patient studied, and may advance during infancy; in contrast, clinical liver dysfunction resolves over the first few months of life. Whereas many patients with Jeune syndrome die early, several have survived into adolescence, suggesting that aggressive treatment is appropriate, especially for those with minimal respiratory and renal involvement. Longitudinal evaluation of liver function and pathology in these survivors is needed to define the long‐term prognosis.

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Asphyxiating Thoracic Dystrophy of the Newborn

Cited by 58 publications

References 0 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)

A Case Report on Jeune Syndrome in a Three Month Old Infant

Direct hyperbilirubinemia and hepatic fibrosis: A new presentation of Jeune syndrome (asphyxiating thoracic dystrophy)

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