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