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Review
. 2016 Jun 30:9:75-82.
doi: 10.2147/TACG.S86420. eCollection 2016.

Alagille syndrome: clinical perspectives

Maha Saleh  1 , Binita M Kamath  2 , David Chitayat  3
Affiliations
Review

Alagille syndrome: clinical perspectives

Maha Saleh et al. Appl Clin Genet. .

Abstract

Alagille syndrome is an autosomal dominant, complex multisystem disorder characterized by the presence of three out of five major clinical criteria: cholestasis with bile duct paucity on liver biopsy, congenital cardiac defects (with particular involvement of the pulmonary arteries), posterior embryotoxon in the eye, characteristic facial features, and butterfly vertebrae. Renal and vascular abnormalities can also occur. Inter- and intrafamilial variabilities in the clinical manifestations are common. We reviewed the clinical features and management as well as the molecular basis of Alagille syndrome.

Keywords: ALGS; Alagille syndrome; genetics; liver.

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Figures

Figure 1
Figure 1
Prenatal diagnosis of Alagille syndrome. Notes: (A) A prenatal anatomy scan revealing kyphosis with underlying thoracic vertebral anomaly (blue arrow). (B) A transverse image shows thoracic hemivertebrae (arrows). (C) A three-dimensional sonogram in the posterior–anterior plane demonstrates classic butterfly and hemivertebrae (arrow).
Figure 2
Figure 2
Xanthomas present on the extensor surface of the buttocks and thighs.
Figure 3
Figure 3
Characteristic facial features seen in ALGS. Notes: Triangular appearance of the face with the high forehead, deep-set eyes with moderate hypertelorism, pointed chin, and saddle or straight nose with a bulbous tip. Parental consent was obtained for use of this photograph. Abbreviation: ALGS, Alagille syndrome.
See this image and copyright information in PMC

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