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Ocular, cerebral and cutaneous malformations: confirmation of an association

Ocular, cerebral and cutaneous malformations: confirmation of an association A newborn with multiple congenital abnormalities including an orbital cyst, cerebral cysts, skin tags and focal dermal defects is described. This case is similar to two patients reported by Delleman & 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

Ocular, cerebral and cutaneous malformations: confirmation of an association

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References (7)

Publisher
Wiley
Copyright
1984 Blackwell Munksgaard
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/j.1399-0004.1984.tb02018.x
Publisher site
See Article on Publisher Site

Abstract

A newborn with multiple congenital abnormalities including an orbital cyst, cerebral cysts, skin tags and focal dermal defects is described. This case is similar to two patients reported by Delleman & 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.

Journal

Clinical GeneticsWiley

Published: May 1, 1984

Keywords: Abnormalities: multiple; eye; skin; central nervous system; arachnoid; focal dermal defect; mental retardation; orbital cyst

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