Alagille's syndrome

Alternative eponyms

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A congenital familial syndrome marked by clinical picture with intrahepatic cholestasis, neonatal jaundice, and hepatomegaly.

Description

A congenital familial syndrome with onset during first three months of life, affecting both sexes. Marked by clinical picture with intrahepatic cholestasis due to hypoplasia of the interlobular biliary duct, neonatal jaundice, hepatomegaly (from 3rd month). Long list of symptoms include dysmorphic (flat) facies sometimes referred to as cholestasis facies, with prominent forehead, mongoloid slant, mild hypertelorism, straight or bulbous nose, and skeletal anomalies; occasionally diffuse xanthomas (palms, extensor areas, creases), and pruritus, Harsh mesosystolic murmur. Growth and mental retardation. In males, hypogonadism. Etiology unknown. Inheritance is autosomal dominant with reduced penetrance and variable expressivity.

Bibliography

  • G. H. Watson, V. Miller:
    Arteriohepatic dysplasia. Familial pulmonary artery stenosis with neonatal liver disease.
    Archives of Disease in Childhood. London, 1973, 48: 459-466.

  • D. Alagille, M. Odièvre, M. Gautier, J. P. Dommergues:
    Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur.

    Journal of Pediatrics, St. Louis, 1975, 86: 63-71.
  • D. Alagille, M. Odièvre, M. Gautier, et al:
    Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur.
    Digestive Diseases and Sciences, New York, 1981, 26: 485-497.
  • D. Alagille, M. Odièvre, M. Gautier et al:
    Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental and sexual development and cardiac murmur.
    Journal of Medical Genetics, London, 1984, 19: 325-332.

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