Ocular, cerebral and cutaneous malformations: confirmation of an association
- 1 May 1984
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 25 (5) , 464-469
- https://doi.org/10.1111/j.1399-0004.1984.tb02018.x
Abstract
A [human] newborn with multiple congenital abnormalities including an orbital cyst, cerebral cysts, skin tags and focal dermal defects is described. This case is similar to 2 patients reported by Delleman and Oorthuys in 1981 under the designation Oculo-cerebro-cutaneous syndrome. Features common to other syndromes are discussed and additional cases with some similarities are also presented. The occurrence of this process in a new population and the cited variability helps confirm and define this association.Keywords
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- Ocular colobomaSurvey of Ophthalmology, 1981