title: A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis.
abstract: Accidental bony injuries are common in children. Children may also present with bony injuries following non-accidental injuries. Pathological fractures, though extremely rare, are an important entity and constitute fractures that occur in abnormal bones, usually after minor trauma. Pycnodysostosis is a rare skeletal dysplasia characterised by a clinical phenotype that includes short stature, skull deformities, osteosclerosis, acroosteolysis and bone fragility. Often the disease is diagnosed at an early age as a result of the investigation of short stature. However, the diagnosis is sometimes delayed and must be considered in any child with a history of recurrent or multiple bone fractures and dysmorphic features. The purpose of this report is to describe the clinical, radiological and genetic issues of a 9-year-old girl with a long history of multiple bone fractures. She had been subjected to safeguarding investigations previously and was identified to have dysmorphic features diagnosed as pycnodysostosis associated with craniosynostosis.
authors.affiliation: Department of Pediatrics, Hospital Dr. Nélio Mendonça, Funchal, Portugal. berenguer.alberto@gmail.com
authors.forename: Alberto
authors.initials: A
authors.lastname: Berenguer
authors.forename: António Pedro
authors.initials: AP
authors.lastname: Freitas
authors.forename: Gomes
authors.initials: G
authors.lastname: Ferreira
authors.forename: José Luis
authors.initials: JL
authors.lastname: Nunes
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D056657:Cathepsin K / Q000235:genetics; D002648:Child; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D019465:Craniofacial Abnormalities; D003398:Craniosynostoses / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D019066:Facies; D005260:Female; D005598:Fractures, Spontaneous / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007091:Image Processing, Computer-Assisted; D021621:Imaging, Three-Dimensional; D009133:Muscular Atrophy / Q000175:diagnosis* / Q000235:genetics; D010026:Osteosclerosis / Q000175:diagnosis / Q000235:genetics; D058631:Pycnodysostosis / Q000175:diagnosis* / Q000235:genetics; D012886:Skull / Q000473:pathology; D014057:Tomography, X-Ray Computed
chemical_list: C534130:CTSK protein, human; D056657:Cathepsin K