Alagille syndrome.
Syndromic paucity of bile ducts or "Alagille syndrome" is characterized by peculiar facies, chronic cholestasis, posterior embryotoxon, butterfly-like vertebral arch defects and peripheral pulmonary artery hypoplasia or stenosis. We present a two-year-old female child with the 'partial' or 'incomplete' Alagille syndrome. The child had three of the five major features of the syndrome. A brief review of literature of the syndrome is presented.
Shendge
Harshalee
H
Department of Pediatrics, Seth G. S. Medical College and KEM Hospital, Mumbai, Maharashtra, India.
Tullu
Milind S
MS
Shenoy
Asha
A
Chaturvedi
Rachana
R
Kamat
Jaishree R
JR
Khare
Manisha
M
Joshi
Amita
A
D016738:Alagille Syndrome / Q000175:diagnosis* / Q000503:physiopathology; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007194:India; D008111:Liver Function Tests; D018570:Risk Assessment; D012720:Severity of Illness Index