Clinical Description

The syndrome was initially described as the association of five major features: paucity of interlobular bile ducts, peripheral pulmonary artery stenosis, butterfly-like vertebral arch defect, posterior embryotoxon, and a peculiar facies.[1] However, minor features such as renal abnormalities, skeletal defect, high-pitched voice, and mental and growth retardation were also described. In addition, some patients occasionally present with clinical features including other arterial stenosis, small bowel atresia, deafness, and diabetes.[2]

Because of the variable expressivity of the syndrome, individuals presenting with three of the five main features are considered to have AGS.[1] All associations are observed and liver or heart manifestations may be absent. Liver and heart involvement are present in 95% of the patients, posterior embryotoxon in 80%, and vertebral arch defect in 65%.[2]

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