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词汇 Pendred syndrome
分类 英语词汇 英语翻译词典
释义

Pendred syndrome

英语百科

Pendred syndrome

Pendred syndrome has an autosomal recessive pattern of inheritance.

Pendred syndrome or Pendred disease is a genetic disorder leading to congenital bilateral (both sides) sensorineural hearing loss and goitre with euthyroid or mild hypothyroidism (decreased thyroid gland function). There is no specific treatment, other than supportive measures for the hearing loss and thyroid hormone supplementation in case of hypothyroidism. It is named after Dr Vaughan Pendred (1869–1946), the English doctor who first described the condition in an Irish family living in Durham in 1896. It accounts for 7.5% of all cases of congenital deafness.

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