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.
Subject(s)
Abnormalities, Multiple/diagnosis , Craniosynostoses/diagnosis , Fractures, Spontaneous/diagnosis , Muscular Atrophy/diagnosis , Pycnodysostosis/diagnosis , Abnormalities, Multiple/genetics , Cathepsin K/genetics , Child , Chromosomes, Human, Pair 1/genetics , Craniofacial Abnormalities , Craniosynostoses/genetics , DNA Mutational Analysis , Facies , Female , Fractures, Spontaneous/genetics , Humans , Image Processing, Computer-Assisted , Imaging, Three-Dimensional , Muscular Atrophy/genetics , Osteosclerosis/diagnosis , Osteosclerosis/genetics , Pycnodysostosis/genetics , Skull/pathology , Tomography, X-Ray ComputedABSTRACT
INTRODUCTION: Although elbow fractures have a high incidence in the pediatric population, fractures of the capitellum are almost exclusively observed in individuals older than 12 years of age. Due to their rarity in children, reports with large numbers of cases are lacking in the literature and the surgical treatment options are poorly defined. CASE PRESENTATION: We present the case of an 11-year-old Portuguese girl with a displaced fracture of the capitellum of the right elbow, a typical Hahn-Steinthal or Type 1 fracture, which was followed for one year. The treatment and outcome of this fracture are described. Our patient underwent an open reduction and internal fixation with two cannulated screws. There were no complications and normal elbow function was recovered. CONCLUSION: The authors believe that cannulated screw fixation is a reliable method of treatment for Type 1 capitellar fracture in children because it enables good interfragmentary compression, early mobilization, faster functional elbow recovery and implant removal is rarely necessary.
