title: Neurological manifestations of the oculodentodigital dysplasia syndrome.
abstract: Oculodentodigital dysplasia (ODDD) (MIM 164200) is a rare autosomal dominant inherited disorder affecting the development of the face, eyes, limbs and dentition. Neurological complications are thought to be occasional manifestations of the disorder. This report illustrates the neurological manifestations by a pedigree of two ODDD patients with spastic paraparesis, cerebral white matter hyperintensity and basal ganglia hypointensity. A systematic review of the English, French, German and Italian literature on ODDD is also provided to summarize the neurological manifestations of the disorder. 243 previously described ODDD cases presented a spectrum of neurological manifestation including spasticity (25), subcortical white matter lesions (9) and basal ganglia changes (6) on MRI. Additional findings consisted of gaze palsy and squinting (28), bladder and bowel disturbances (21), visual loss (20) and blindness (4), hearing loss (15), ataxia (11), nystagmus (9), muscle weakness (5) and paresthesias (3). Neurological manifestations, including spasticity associated with MRI changes, are an underrecognized feature in the ODDD phenotype. A clinical guide to the neurological manifestations of ODDD may assist in the assessment of patients with this condition.
authors.affiliation: Department of Neurology, Westfälische Wilhelms-Universität, Münster, Germany.
authors.forename: Tobias
authors.initials: T
authors.lastname: Loddenkemper
authors.forename: Kerstin
authors.initials: K
authors.lastname: Grote
authors.forename: Stefan
authors.initials: S
authors.lastname: Evers
authors.forename: Michael
authors.initials: M
authors.lastname: Oelerich
authors.forename: Florian
authors.initials: F
authors.lastname: Stögbauer
mesh_terms: D000328:Adult; D001921:Brain / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D003389:Cranial Nerve Diseases / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D005124:Eye Abnormalities / Q000150:complications*; D005260:Female; D006228:Hand Deformities, Congenital / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009421:Nervous System Malformations / Q000473:pathology / Q000503:physiopathology*; D010641:Phenotype; D014071:Tooth Abnormalities / Q000150:complications*