MLP017 Lowe syndrome (oculo-cerebro-renal syndrome): case report
β Scribed by V. Sabolic Avramovska; F. Duma; V. Tasic; M. Ludwig; P. Korneti
- Book ID
- 114359571
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 42 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1090-3798
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A newborn girl is described with the following multiple congenital anomalies: an orbital cyst, cutaneous appendages, focal hypo-aplasia of the skin and multiple cerebral cysts. This case of oculo-cerebro-cutaneous syndrome is compared with four previously published cases.
We report on an 11-year-old boy with distinct facial anomalies, iris coloboma, iris hypoplasia, cataract, high myopia, retinal detachment, moderate sensorineural hearing loss, and proteinuria. He appears to have the facio-oculo-acoustico-renal (FOAR) syndrome, a rare familial disorder reported only