A hypomyelinating leukodystrophy with calcification: oculodentodigital dysplasia
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neurologica Belgica"
DOI: 10.1007/s13760-019-01178-4
Abstract: A 16-year-old boy was admitted to our clinic with facial dysmorphism involving microphthalmia, short narrow palpebral fissures, a narrow nose, a depressed nasal bridge, micrognathia, and clinodactyly. Neurological examination revealed spastic tetraparesis, upper and lower… read more here.
Keywords: hypomyelinating leukodystrophy; calcification oculodentodigital; calcification; oculodentodigital dysplasia ... See more keywords
Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review
Sign Up to like & getrecommendations! Published in 2019 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2019.1571616
Abstract: ABSTRACT Background: Oculodentodigitaldysplasia (ODDD; MIM no. 164200) is a rare hereditary disorder caused by mutations in the gene GJA1.Ocular disorders included microcornea, cornea opacity and glaucoma. However, few studies described fundus findings. Materials and methods:… read more here.
Keywords: novel ocular; oculodentodigital dysplasia; ocular findings; dysplasia ... See more keywords