Renal dysplasia, situs inversus totalis, and multisystem fibrosis: a new syndrome.
Renal dysplasia was associated with situs inversus totalis and multisystem fibrosis in a severely hydropic stillborn female fetus. The ureters were duplicated and showed fibrous obliteration. The pancreas, thyroid, and uterus were fibrotic, and the lungs had small and large irregular pulmonary lobules bounded by fibrotic septa. An extensive fibrous pericarditis was considered the etiology of hydrops. A similar spectrum of anomalies including bilateral renal dysplasia, situs inversus totalis, and pancreatic and hepatic fibrosis has been described in three separate reports. Our case is similar with additional findings of fibrosis of the thyroid, uterus, pulmonary septa, and pericardial tissues. We believe the presence of situs inversus totalis, renal dysplasia, and multisystem fibrosis constitutes a new syndrome.
Pinar
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Program in Developmental Pathology, Brown University, Women's and Infants' Hospital, Providence, Rhode Island 02905.
Rogers
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BB
D000015:Abnormalities, Multiple / Q000473:pathology*; D005260:Female; D005313:Fetal Death / Q000473:pathology; D005355:Fibrosis / Q000150:complications* / Q000473:pathology; D006801:Humans; D015160:Hydrops Fetalis / Q000150:complications / Q000473:pathology; D007668:Kidney / Q000002:abnormalities*; D012857:Situs Inversus / Q000150:complications* / Q000473:pathology; D013577:Syndrome