Oppenheimer C, Oliveira B C, Sogabe M, Sanvito W
Disciplina de Neurologia da Faculdade de Ciências Médicas, São Paulo, Brasil.
Arq Neuropsiquiatr. 1996 Mar;54(1):120-3. doi: 10.1590/s0004-282x1996000100020.
Pyle's syndrome is a rare picture of osseous dysplasia with autosomal recessive inheritance beginning in early childhood. The authors report the case of a 15-years-old female patient with bilateral lower motor neuron facial palsy, progressive hearing loss, salience of frontal bone, metaphyseal enlargement of the lower limbs and genu valgus. In the present paper we briefly review the clinical features and the differential diagnosis of Pyle's syndrome.
派尔综合征是一种罕见的骨发育异常病症，呈常染色体隐性遗传，始于儿童早期。作者报告了一例15岁女性患者，该患者患有双侧下运动神经元性面瘫、进行性听力丧失、额骨突出、下肢干骺端增大以及膝外翻。在本文中，我们简要回顾了派尔综合征的临床特征及鉴别诊断。
