| Literature DB >> 12702162 |
Abstract
We describe a boy whose prime features are severe-to-profound mental retardation, intractable complex seizures, lissencephaly, facial dysmorphism, and lymphatic abnormalities. To our knowledge, this is the fourth reported case of this syndrome. We propose the syndromic appellation of cerebro-oculo-facial-lymphatic syndrome, suggest cardinal diagnostic features, and discuss several possible overlapping syndromic diagnoses.Entities:
Mesh:
Year: 2003 PMID: 12702162 DOI: 10.1034/j.1399-0004.2003.00052.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438