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]

Diabetes Sustenance

Diabetes Sustenance

Get All The Support And Guidance You Need To Be A Success At Dealing With Diabetes The Healthy Way. This Book Is One Of The Most Valuable Resources In The World When It Comes To Learning How Nutritional Supplements Can Control Sugar Levels.

Get My Free Ebook


Post a comment