title: Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis.
abstract: Oculoectodermal syndrome (OES) is characterized by epibulbar dermoids, aplasia cutis congenita, and other abnormalities. Here, we report 2 new cases, review 13 previous cases, and propose that OES may be a mild variant of encephalocraniocutaneous lipomatosis (ECCL), differing primarily in its lack of intracranial pathology.
authors.affiliation: Section of Medical Genetics and Molecular Medicine, Children's Mercy Hospitals and Clinics, Kansas City, Missouri, USA. hhardinger@cmh.edu
authors.forename: Holly H
authors.initials: HH
authors.lastname: Ardinger
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Horii
authors.forename: Michael L
authors.initials: ML
authors.lastname: Begleiter
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000505:Alopecia / Q000175:diagnosis; D001921:Brain / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005124:Eye Abnormalities / Q000175:diagnosis*; D019066:Facies; D005260:Female; D006222:Hamartoma / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008068:Lipomatosis / Q000175:diagnosis*; D008297:Male; D020752:Neurocutaneous Syndromes / Q000175:diagnosis*; D010641:Phenotype; D012868:Skin Abnormalities / Q000175:diagnosis*; D013577:Syndrome