A hypomyelinating leukodystrophy with calcification: oculodentodigital dysplasia
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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