Encephalocraniocutaneous lipomatosis.
Two patients with encephalocraniocutaneous lipomatosis have been studied. The main features of the syndrome are unilateral cutaneous and ophthalmologic lesions with ipsilateral cerebral malformations. Seizures beginning in infancy and varying degrees of mental retardation are present in affected patients. The involved tissues are derived from the embryonic ectodermal and mesodermal layers.
D001932:Brain Neoplasms / Q000150:complications*; D002675:Child, Preschool; D004475:Ectoderm; D005134:Eye Neoplasms / Q000150:complications; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D008068:Lipomatosis / Q000150:complications*; D008297:Male; D008648:Mesoderm; D012590:Sclera; D012640:Seizures / Q000209:etiology; D012878:Skin Neoplasms / Q000150:complications*; D012888:Skull Neoplasms / Q000150:complications*