Cerebro-oculo-facial-lymphatic syndrome.
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.
Milunsky
J M
JM
Center for Human Genetics, Department of Pediatrics, Boston University School of Medicine, Massachusetts 02118, USA. jmilunsk@bu.edu
Capin
D M
DM
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000002:abnormalities*; D001938:Brazil; D002648:Child; D019066:Facies; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D012640:Seizures / Q000150:complications; D013577:Syndrome