𝔖 Bobbio Scriptorium
✦   LIBER   ✦

MLP017 Lowe syndrome (oculo-cerebro-renal syndrome): case report

✍ 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

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Oculo-cerebro-cutaneous syndrome: descri
✍ P. L. Giorgi; O. Gabrielli; C. Catassi; G. V. Coppa πŸ“‚ Article πŸ“… 1989 πŸ› Springer 🌐 English βš– 583 KB

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.

Facio-oculo-acoustico-renal (FOAR) syndr
✍ Schowalter, David B.; Pagon, Roberta A.; Kalina, Robert E.; McDonald, Ruth πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 246 KB

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