Results 171 to 180 of about 7,052 (205)
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1996
This syndrome has three distinct sub-types, depending on the presence and severity of specific characteristics. For example, type 3 has abnormalities of the limbs in addition to the features shown by the other two types. The general overall incidence of the condition, taking all the sub-types into account, is one in every 20 000 to 40 000 births.
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This syndrome has three distinct sub-types, depending on the presence and severity of specific characteristics. For example, type 3 has abnormalities of the limbs in addition to the features shown by the other two types. The general overall incidence of the condition, taking all the sub-types into account, is one in every 20 000 to 40 000 births.
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The Journal of Pediatrics, 1960
Summary 1. Individuals with Waardenburg's syndrome, including the first reported instances in the Negro race, have been presented. 2. This syndrome consists of: A. Lateral displacement of the medial canthi of the eyes and of the lacrimal puncta. B. A hyperplastic, broad nasal root. C. Hyperplasia of the medial portions of the eyebrows.
Angelo M. DiGeorge +2 more
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Summary 1. Individuals with Waardenburg's syndrome, including the first reported instances in the Negro race, have been presented. 2. This syndrome consists of: A. Lateral displacement of the medial canthi of the eyes and of the lacrimal puncta. B. A hyperplastic, broad nasal root. C. Hyperplasia of the medial portions of the eyebrows.
Angelo M. DiGeorge +2 more
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Waardenburg syndrome Waardenburg sendromu
2005Waardenburg Syndrome (WS) is an autosomal dominant syndrome characterized with hearing loss and pigmentation disorders. Its frequency has been reported to be 1/20.000-40.000. Among its clinical features dystopia canthorum, high broad nasal root, synorphrys, heterochromia iridium or isochromic blue irides of both eyes, white forelock, pigmentary ...
Zafer, Cansu, Silan, FATMA
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Yan ke xue bao = Eye science, 1993
We report a patient with Waardenburg syndrome. He suffers from congenital deafness and presents high broad nasal root, synophrys, iris heterochromia and fundus hypopigment. The dystopia canthus is absence. In his family pedigree analysis, we found that his second cousin has oculocutaneous albinism.
D, Li, Q, Ma, Y, Chen, L, Zeng
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We report a patient with Waardenburg syndrome. He suffers from congenital deafness and presents high broad nasal root, synophrys, iris heterochromia and fundus hypopigment. The dystopia canthus is absence. In his family pedigree analysis, we found that his second cousin has oculocutaneous albinism.
D, Li, Q, Ma, Y, Chen, L, Zeng
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An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
Nature, 1992Aubrey Milunsky
exaly