title: [Schimmelpenning-Feuerstein-Mims syndrome and its neurologic manifestations. 6 personal cases and review of the literature].
abstract: The Schimmelpenning-Feuerstein-Mims-syndrome includes deformities and dysplasias of the skin, eyes, brain, skeleton, and heart. It may result from a malformation of the ectodermal and mesodermal blastoderm in the third week of gestation. We here report on 6 patients who presented between 1977 and 1993 in comparison with those cases in the literature. All children presented neurologic symptoms. The major symptom was a linear epidermal nevus. In addition we found mental retardation, convulsions, asymmetries of the cranial structures or dilated cerebral ventricles ipsilateral to the nevus. One child had a defect of the skull and scalp, a symptom not previously mentioned in the literature. Our patients exhibited a wide phenotypice spectrum ranging from mild to severe forms. Severe neurological symptoms were also found in patients despite minimal dermal involvement.
authors.affiliation: Abteilung Pädiatrische Neurologie, Johann Wolfgang Goethe-Universität Frankfurt am Main.
authors.forename: C
authors.initials: C
authors.lastname: Fritzsch
authors.forename: R
authors.initials: R
authors.lastname: König
authors.forename: G
authors.initials: G
authors.lastname: Jacobi
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D004569:Electroencephalography; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006222:Hamartoma / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D010641:Phenotype; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014071:Tooth Abnormalities / Q000175:diagnosis / Q000235:genetics