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Further delineation of cerebro-osteo-nephrosis syndrome

✍ Scribed by Udler, Yevgenia; Halpern, Gabrielle J.; Sher, Carron; Davidovitz, Miriam; Shohat, Mordechai

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 15 KB
Volume: 72
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971112)72:4<383::aid-ajmg1>3.0.co;2-s

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✦ Synopsis

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. Am. J. Med. Genet. 72:383-385, 1997.

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