Cerebro-oculo-facio-skeletal syndrome: Further delineation
β Scribed by Gershoni-Baruch, Ruth ;Ludatscher, Ruth M. ;Lichtig, Chaim ;Sujov, Polo ;Machoul, Imad
- Publisher
- John Wiley and Sons
- Year
- 1991
- Tongue
- English
- Weight
- 482 KB
- Volume
- 41
- Category
- Article
- ISSN
- 0148-7299
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π SIMILAR VOLUMES
We describe an Israeli Jewish child of Yemenite origin who may be affected with ''cerebro-osteo-nephrosis.'' She is short of stature (height below 3rd centile) due to skeletal abnormalities. She has minor anomalies and borderline intelligence. There is marked proteinuria and she is in kidney failure
## Abstract Because Cardioβfacioβcutaneous (CFC) syndrome has significant phenotypic overlap with Costello syndrome, it may be difficult to establish the diagnosis on a clinical basis. The recent discoveries of germline __HRAS__ mutations in patients with Costello syndrome and mutations in __BRAF__