Article
Prenatal diagnosis of Joubert syndrome: A case report and literature review.
Medicine - 1 Dec 2017
Zhu Lingling, Xie Limei
Abstract excerpt
INTRODUCTION: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and related disorders...
Topics
- Abnormalities, Multiple
- Adaptor Proteins, Signal Transducing
- Adaptor Proteins, Vesicular Transport
- Cerebellum
- Dandy-Walker Syndrome
- Diagnosis, Differential
- Eye Abnormalities
- Female
- Genetic Counseling
- Gestational Age
- Humans
- Kidney Diseases, Cystic
- Mutation
- Pregnancy
- Retina
- Ultrasonography, Prenatal
- Young Adult