Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome.

ABSTRACT:

Background

Alagille syndrome (ALGS) is a multisystem genetic disorder frequently characterized by hepatic manifestations. This study analyzed the clinical, pathological, and molecular genetic features of ALGS to improve the efficiency of clinical diagnosis.

Methods

We retrospectively analyzed the clinical manifestations, pathological examination findings, and genetic testing results of 17 children diagnosed with ALGS based on the revised criteria and hospitalized at our center from January 2012 to January 2022.

Results

The clinical manifestations are as follows: Cholestasis (16/17, 94%), characteristic facies (15/17, 88%), heart disease (12/16, 75%), butterfly vertebrae (12/17, 71%) and posterior embryotoxon (7/12, 58%). Among the 15 patients who underwent liver patho

SUBMITTER: Yan J 

PROVIDER: S-EPMC11334458 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature