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Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis
Holly H Ardinger1, Kimberly A Horii, Michael L Begleiter
1Section of Medical Genetics and Molecular Medicine, Children's Mercy Hospitals and Clinics, Kansas City, Missouri, USA. hhardinger@cmh.edu
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.
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