Alligile Syndrome
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Alagille syndrome (AS) is an autosomal dominant disorder (OMIM 118450) associated with abnormalities of the liver, heart, skeleton, eye, and kidneys and a characteristic facial appearance. In 1973, Watson and Miller reported 9 cases of neonatal liver disease with familial pulmonary valvular stenosis.
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This video covers Alagille syndrome. It describes it as an autosomal dominant disorder associated with abnormalities of the liver, heart, skeleton, eye and kidneys and a characteristic facial appearance, and references Watson and Miller's 1973 report of nine cases of neonatal liver disease with familial pulmonary valvular stenosis.
Key points
- Alagille syndrome is described as an autosomal dominant disorder
- Abnormalities of the liver, heart, skeleton, eye and kidneys are listed
- A characteristic facial appearance is noted
- A 1973 report of nine cases of neonatal liver disease with familial pulmonary valvular stenosis is referenced
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