title: Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy).
abstract: 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.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, University of Iowa Hospitals & Clinics, Iowa City, USA. kim-keppler@uiowa.edu
authors.forename: Kim M
authors.initials: KM
authors.lastname: Keppler-Noreuil
authors.forename: Margaret P
authors.initials: MP
authors.lastname: Adam
authors.forename: Judy
authors.initials: J
authors.lastname: Welch
authors.forename: Ann
authors.initials: A
authors.lastname: Muilenburg
authors.forename: Marcia C
authors.initials: MC
authors.lastname: Willing
mesh_terms: D002648:Child; D002675:Child, Preschool; D004613:Ellis-Van Creveld Syndrome / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male