Branchial dysplasia, mental deficiency, club feet, and inguinal herniae: a report of two further cases associated with paucity of interlobular bile ducts.
نویسندگان
چکیده
The observation of two new cases in a previously reported family has brought about a change in the delineation of the syndrome initially defined. To the abnormalities already described (branchial dysplasia, mental deficiency, club feet, inguinal herniae) must be added a paucity of interlobular bile duts; the relationship between this new syndrome and the Alagille syndrome requires reconsideration.
منابع مشابه
Arteriohepatic dysplasia (Alagille's syndrome): a common cause of conjugated hyperbilirubinemia.
Syndromatic paucity of interlobular bile ducts is a common cause of conjugated hyperbilirubinemia in children. The clinical presentation is not always obvious. Therefore, the liver biopsy may be a useful diagnostic tool in the definition of this entity. The hepatic and biliary morphology of five children with arteriohepatic dysplasia (Allagille' syndrome) is described. Prior to diagnosis, four ...
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Arteriohepatic dysplasia or congenital paucity of interlobular bile ducts - Alagille Syndrome, is a well defined syndrome characterized by five major features, including chronic cholestasis, posterior embryotoxon, butterfly-like vertebral arch defects, peripheral pulmonary artery hypoplasia or stenosis and facial dysmorphy. The disease is very rare. Only three cases have been reported in Greece...
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Approach to an infant with jaundice and persistent conjugated hyperbilirubinemia includes several pediatric investigations with a different spectrum of invasiveness ranging from clinical biochemistry to liver biopsy. The broad and intense level of investigation needs to be set up soon to exclude surgical conditions that would prompt the child to a beneficial at least temporary solution. Paucity...
متن کاملA 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report
BACKGROUND Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests with five major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects, and peripheral pulmonary stenosis. Globally, only 500 cases have so far been reported, with only five cases reported in the Indian subcontinent. Rarely, Alagille syndro...
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One hundred and three infants with prolonged cholestasis beginning before 3 months were classified as having alpha-1-antitrypsin deficiency (17 patients), scanty interlobular bile ducts (16 patients), or "neonatal hepatitis" (70 patients). Twenty-two gradually developed chronic liver disease and the remaining 81 recovered within a few months. Prognosis was found to be poor for infants with alph...
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عنوان ژورنال:
- Journal of medical genetics
دوره 27 5 شماره
صفحات -
تاریخ انتشار 1990