title: [Multiple long bone fractures in a child with pycnodysostosis. A case report].
abstract: Fractures are an important entity to consider in pediatric patients. There are certain diseases in which bones fracture with a minimal trauma. Pycnodysostosis is an autosomal recessive unusual type of cráneo metaphyseal dysplasia, that presents frequently as fracture in a pathological bone. A 9 year old caucasian female, diagnosed with pycnodysostosis, was admitted with a right femur fracture as a result of a low energy trauma. Radiographic studies showed bilateral femur fractures, proximal fracture and non-union in antecurvatum of the left tibia. Pycnodysostosis is a rare disease, generally diagnosed at an early age by growth restriction, frequent fractures or fractures with low energy trauma. Therapy alternatives are limited, and no permanent cure has been developed. If a patient has dysmorphic facial features and fractures in a pathological bone, it is important to suspect bone dysplasia, such as pycnodysostosis and its differential diagnoses.
authors.affiliation: Universidad Austral de Chile, Valdivia, Chile. solopaula_9@hotmail.com.
authors.forename: Paula I
authors.initials: PI
authors.lastname: Rojas
authors.affiliation: Universidad Austral de Chile, Valdivia, Chile.
authors.forename: Nathia E
authors.initials: NE
authors.lastname: Niklitschek
authors.affiliation: Hospital Base Valdivia, Temuco, Chile.
authors.forename: Matías F
authors.initials: MF
authors.lastname: Sepúlveda
mesh_terms: D002648:Child; D005260:Female; D050723:Fractures, Bone / Q000209:etiology*; D006801:Humans; D009104:Multiple Trauma / Q000209:etiology*; D058631:Pycnodysostosis / Q000150:complications*
keywords: Bone fractures; Cathepsin K; Osteosclerosis; Pycnodysostosis