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- W2017248864 abstract "Congenital deafness may be associated with hereditary disorders of keratinization. Pili torti, twisted hair, was first reported by Bjornstad with sensorineural deafness. We have found four similar patients with partial alopecia from pili torti. The inheritance appears to be autosomal dominant in character. Congenital deafness of the sensorineural type also has been noted with onychodystrophy, ainhum, and keratosis palmaris et plantaris. Hereditary disorders with important dermatological neurological complications may show an associated deafness. These include Refsum's, Cockayne's, Hunter's, and Laurance-Moon-Bardet-Biedl syndromes, xeroderma pigmentosa, and hidrotic ectodermal dysplasia. Congenital malformations sometimes from hereditary causes may show abnormal implantations of hair (Treacher-Collins syndrome), nail dystrophy (Turner's syndrome), and malformed ears with ear pits and sinus tracts. One patient with Klein-Waardenburg syndrome was noted to have malformed ears with postauricular sinus tracts." @default.
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- W2017248864 date "1967-05-01" @default.
- W2017248864 modified "2023-10-14" @default.
- W2017248864 title "Hereditary Syndromes With Auditory and Dermatological Manifestations" @default.
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- W2017248864 doi "https://doi.org/10.1001/archderm.1967.01600350018003" @default.
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