Joubert syndrome with polydactyly and optic coloboma in two sibs
β Scribed by Archana S. Kher; Arijit Chattopadhyay; Abhay Divekar; Kiran Khambekar; Burjor A. Bharucha
- Book ID
- 112882447
- Publisher
- Springer-Verlag
- Year
- 1994
- Tongue
- English
- Weight
- 507 KB
- Volume
- 61
- Category
- Article
- ISSN
- 0019-5456
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
We report on 2 sisters with Karsch-Neugebauer syndrome comprising split foot and split hand anomalies in association with congenital nystagmus. These sisters share a nearly identical phenotype with the 8 previously reported instances of this disorder. Although genetic heterogeneity can not be formal
## Abstract Joubert syndrome (JS) is characterized by hypotonia, ataxia, developmental delay, and a typical neuroimaging finding, the soβcalled βmolar tooth signβ (MTS). The association of MTS and polymicrogyria (PMG) has been reported as a distinct JSβrelated disorder (JSRD). So far, five patients
Two sibs are reported with Walker-Warburg syndrome including hydrocephalus, agyria, anterior chamber dysgenesis, and encephalocele. In addition, both had cleft lip