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.
osseous osteochondrodysplasia; osseous dysplasia; craniometaphyseal dysplasia; Pyle's syndrome