Differences
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| Both sides previous revision Previous revision Next revision | Previous revision | ||
| schimmelpfennig_feuerstein_mims_syndrome [2026/06/29 08:18] – [Other Findings] Scott Larson | schimmelpfennig_feuerstein_mims_syndrome [2026/06/29 08:19] (current) – [Main Features] Scott Larson | ||
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| Line 6: | Line 6: | ||
| * linear or systematized nevus sebaceus typically involving the scalp or face | * linear or systematized nevus sebaceus typically involving the scalp or face | ||
| * linear, waxy, alopecic plaque typically of the scalp or face | * linear, waxy, alopecic plaque typically of the scalp or face | ||
| + | * 2.4% lifetime risk of malignant transformation | ||
| * **Classic Triad** | * **Classic Triad** | ||
| * Seizures | * Seizures | ||
| Line 21: | Line 22: | ||
| * Coloboma of eyelid, choroid and/or retina | * Coloboma of eyelid, choroid and/or retina | ||
| * Optic nerve hypoplasia or atrophy | * Optic nerve hypoplasia or atrophy | ||
| + | * Choroidal osteomas | ||
| * Peripapillary staphyloma | * Peripapillary staphyloma | ||
| * Microphthalmia | * Microphthalmia | ||
| * Strabismus | * Strabismus | ||
| * Ptosis | * Ptosis | ||
| + | * Cortical visual impairment | ||
| ====Other Findings==== | ====Other Findings==== | ||
| * Skeletal Defects | * Skeletal Defects | ||