Clinical and genetic characteristics of 36 children with Joubert syndrome.

ABSTRACT:

Background and aims

Joubert syndrome (JBTS, OMIM # 213300) is a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities. Molar tooth sign in brain imaging is the hallmark for diagnosing JBTS. It is a clinically and genetically heterogeneous disorder involving mutations in more than 40 ciliopathy-related genes. However, long-term follow-up data are scarce, and further research is needed to determine the abundant phenotypes and genetics of this disorder. The study aimed to summarize clinical manifestations, particular appearance on cranial imaging, genetic data, and prognostic features of patients with JBTS.

Methods

A retrospective case review of 36 cases of JBTS from May 1986 to Decembe

SUBMITTER: Dong Y 

PROVIDER: S-EPMC10401045 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature