Direct hyperbilirubinemia and hepatic fibrosis: A new presentation of Jeune syndrome (asphyxiating thoracic dystrophy) (original) (raw)
1987, American Journal of Medical Genetics
AI-generated Abstract
This paper presents a clinical report of a female infant diagnosed with Jeune syndrome, who exhibited direct hyperbilirubinemia and hepatomegaly at 10 days of age, but surprisingly showed no signs of liver disease at age 3. The findings suggest a potential link between Jeune syndrome and hepatic dysfunction, emphasizing the need for thorough evaluation of liver health in infants with such presentations. Radiographic features consistent with Jeune syndrome were documented, highlighting the importance of monitoring and understanding liver function status in these patients.
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