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- W2093770023 abstract "Nail patella syndrome, also known as hereditary osteo-onychodysplasia, is an autosomal dominant disorder characterized by hypoplastic or absent patellae; dysplastic, hypoplastic, or absent thumb nails; iliac horns; and elbow abnormalities. 1 Nephropathy is a known association 2 and may be a cause of death. There has been no reported association of hearing loss with this condition. We present a family with nail patella syndrome where such an association may be present. Report of a Case. This patient was one of five offspring of the nonconsanguineous marriage of two white individuals. She was first seen in 1965 at the age of 6 months with bilateral acute otitis media that resolved with conservative treatment. Her hearing was believed to be normal. By 1973 she had developed characteristic features of the nail patella syndrome. In 1975, at the age of 11 years, a left sensorineural hearing loss was noted ( Figure ). Examination of the" @default.
- W2093770023 created "2016-06-24" @default.
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- W2093770023 date "1994-06-01" @default.
- W2093770023 modified "2023-09-25" @default.
- W2093770023 title "Sensorineural Hearing Loss and Nail Patella Syndrome" @default.
- W2093770023 cites W2052044812 @default.
- W2093770023 cites W2092668084 @default.
- W2093770023 doi "https://doi.org/10.1001/archotol.1994.01880300088016" @default.
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