title: [Variability of Jeune syndrome. Lung hypoplasia, renal failure and direct hyperbilirubinemia in a newborn infant].
abstract: Asphyxiating thoracic dysplasia (Jeune-syndrome) is an autosomal inherited disease which is characterized by bone dysplasia, renal and hepatic malformations of various expressivity. Newborns who have serious thoracic dysplasia with associated lung hypoplasia normally die during the neonatal period. Patients without signs of pulmonary defects may develop progressive renal failure due to an interstitial fibrosis. In addition, liver- and pancreas fibroses are found. We recently observed the greater variability of clinical manifestation in two patients with Jeune-syndrome. The first patient, a mature male newborn infant, presented early signs of respiratory disease and, more interestingly, had high serum levels of 5.1 mg/dl conjugated bilirubin at day 1; the maximal bilirubin-concentration was 26.5 mg/dl at day 9. Additionally, he developed progressive renal failure (maximal serum creatinin: 2.7 mg/dl at day 13). The patient eventually died of respiratory failure. To our knowledge such an early onset of severe hepato-renal manifestation has not been observed in patients with this disorder. A second term newborn infant with typical radiological signs of Jeune-syndrome and severe lung hypoplasia died within hours after birth. No hepato-renal defects could be documented in this patient.
authors.affiliation: Universitäts-Kinderklinik Göttingen.
authors.forename: K
authors.initials: K
authors.lastname: Harms
authors.forename: O
authors.initials: O
authors.lastname: Klinge
authors.forename: C P
authors.initials: CP
authors.lastname: Speer
mesh_terms: D001238:Asphyxia Neonatorum / Q000473:pathology; D003241:Consanguinity; D006801:Humans; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000473:pathology*; D007567:Jaundice, Neonatal / Q000473:pathology*; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000473:pathology*; D008297:Male; D010009:Osteochondrodysplasias / Q000473:pathology; D051437:Renal Insufficiency / Q000473:pathology*; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities*
vernacular_title: Variabilität des Jeune-Syndroms. Lungenhypoplasie, Niereninsuffizienz und direkte Hyperbilirubinämie beim Neugeborenen.