Joubert Syndrome with Orofacial Digital Features
Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g., pigmentary retinopathy, oculomotor apraxia, and nystagmus), renal cysts, and hepatic fibrosis. Respiratory abnormalities, as apnea and hyperpnea, m...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Thieme Medical and Scientific Publishers Pvt. Ltd.
2018-01-01
|
| Series: | Journal of Neurosciences in Rural Practice |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.4103/jnrp.jnrp_338_17 |