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. Opitz et al. [1985: Am J Med Genet 22:521-529] described 2 Hutterite sisters in America who were suffering from a condition which greatly resembles that of our patient. We question whether these conditions in the two families are the same syndrome with pleiotropic expression, as suggested by Opitz et al., or whether they represent two distinct genetic entities.
|Number of pages||3|
|Journal||American Journal of Medical Genetics|
|State||Published - 12 Nov 1997|
- Minor anomalies
- Short stature