Teaching NeuroImages: Oculodentodigital dysplasia: Hypomyelination and syndactyly
نویسندگان
چکیده
منابع مشابه
Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum?
A family is described with type III syndactyly and facies resembling the oculodentodigital dysplasia facial phenotype in the absence of any of the other characteristic findings of the latter condition. The relationship between type III syndactyly and oculodentodigital dysplasia is discussed.
متن کامل[Hereditary glaucoma associated with oculodentodigital dysplasia].
CASE REPORT A newborn evaluated at 20 days old due to occasional nystagmus. Her mother had presented with oculodentodigital dysplasia (ODDD) and glaucoma. The physical examination revealed opaque micro-corneas, and horizontal nystagmus. The tonometry showed 35 mm Hg in OD and 40 mm Hg in OS and the fundus examination was normal. She had a narrow nasal bridge with narrow nostrils, and fourth and...
متن کاملTeaching NeuroImages: Gasperini syndrome.
Gasperini syndrome is a rare crossed brainstem syndrome characterized by ipsilateral impairment of the VI, VII, and occasionally VIII cranial nerves and contralateral sensory loss. The syndrome, initially described by Ubaldo Gasperini in 1912, results from a lesion of the caudal pons tegmentum (figure e-1, links.lww.com/WNL/A47). The most frequent cause is the occlusion of the long circumferent...
متن کاملTeaching NeuroImages: chordoma.
A 30-year-old man presented with recurrent headaches. CT head revealed a clival chordoma (figure 1A). Chordomas originate from the embryonic remnants of the notochord and account for 2%–4% of all malignant bone tumors. They have a predilection for the axial skeleton, with 35% affecting the spheno-occipital region. The incidence peaks at ages 20–40 years. Male patients are affected twice Figure ...
متن کاملTeaching neuroimages: Gradenigo syndrome.
since 1951, it is now a weekly with 48 issues per year.
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ژورنال
عنوان ژورنال: Neurology
سال: 2012
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e31826e9b51