Night blindness, characteristic facies, and skeletal abnormalities in two brothers.
نویسندگان
چکیده
منابع مشابه
Night blindness, characteristic facies, and skeletal abnormalities in two brothers.
Two brothers are described with a similar physical appearance characterised by minor periorbital anomalies, malar flatness, a maxillary overbite, retrognathia, sloping shoulders, joint hyperextensibility, and minor radiological anomalies. In addition, they had a slowly progressing night blindness, myopia, and extinguished electroretinograms. The mother had mild expression of some of the physica...
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Ten patients with the incomplete type of congenital stationary night blindness (CSNB) were examined with a 30 Hz flicker electroretinogram (ERG). After 30 min of dark adaptation, 30 Hz flicker ERG was recorded continuously for 12-15 min under white background illumination. All patients showed an exaggerated increase of amplitude and a universal characteristic change of wave shape as the light a...
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Piebaldism is an autosomal dominant uncommon (<1 in 20,000) congenital pigmentary disorder. Depigmented patches are present since birth. They usually remain unchanged throughout life. Vitiligo is its closest differential diagnosis. We report a unique family in which these two dissimilar depigmentations, i.e. piebaldism and vitiligo (with nevus depigmentosus), were noted in two brothers. T...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1979
ISSN: 1468-6244
DOI: 10.1136/jmg.16.4.309