[Ocular findings in syndroma of Schimmelpenning-Feuerstein and Mims (author's transl)].
This is a description of a male patient, now 8-years-old, with the syndrome described by Schimmelpennig-Feuerstein and Mims. Characteristic for this clinical picture, which is classified as a phacomatosis, are a striated and sponge-like naevus sebaceus, disorders of the central nervous system taking the form of debility and epileptic attacks, and multiple anomalies of the eyes, such as microphthalmus, coloboma of the eyelids and optic nerve with ablatio falciformis, as well as dermoids and teratomas of the conjunctiva.
D002648:Child; D003103:Coloboma / Q000150:complications; D003228:Conjunctiva; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000150:complications; D005124:Eye Abnormalities; D005132:Eye Manifestations; D005134:Eye Neoplasms / Q000150:complications; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D008850:Microphthalmos / Q000150:complications; D009456:Neurofibromatosis 1 / Q000175:diagnosis; D009506:Nevus / Q000150:complications*; D012163:Retinal Detachment / Q000150:complications; D013577:Syndrome; D013724:Teratoma / Q000150:complications
Augenbefunde beim Syndrom nach Schimmelpenning-Feuerstein und Mims