Joubert syndrome with retinal dystrophy and renal cysts: Reply to Dr. Di Rocco
✍ Scribed by Baraitser, Michael
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 53 KB
- Volume
- 46
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
✦ Synopsis
Dr. Di Rocco [19931 may be correct in stating that some of the patients in our group with retinal dystrophy and cerebellar abnormalities, which we thought were different from Joubert syndrome, could well have carbohydrate deficient glycoprotein (CDG) syndrome, and I thank her for her suggestion. Unfortunately, those patients have not survived, but in future we will test for this condition.
My awareness of the CDG syndrome [Jaeken et al., 19911 in its other milder form was highlighted recently by a mistaken diagnosis that I made in another pair of sibs who seemed to have a clinical picture that would fit an ataxic cerebral palsy. Progression of the ataxia was so