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Severe oculocerebrocutaneous (Delleman) syndrome: Overlap with Goldenhar anomaly

✍ Scribed by McCandless, Shawn E.; Robin, Nathaniel H.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 21 KB
Volume: 78
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980707)78:3<282::aid-ajmg15>3.0.co;2-b

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✦ Synopsis

Oculocerebrocutaneous syndrome (OCCS), or Delleman syndrome, is a multiple congenital anomaly syndrome characterized by orbital cysts, cerebral malformations, and focal dermal hypoplasia [Delleman and Oorthuys, 1981, Clin Genet 19:191-198; Delleman et al., 1984, Clin Genet 25:470-472]. Two previous reports presented children having what is suggested as the more severe form of the OCCS syndrome who also had anophthalmia, congenital hydrocephalus, and cleft lip and palate [

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