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Unusual association of diseases/symptoms
A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis
  1. Alberto Berenguer1,
  2. António Pedro Freitas2,
  3. Gomes Ferreira1,
  4. José Luis Nunes1
  1. 1Department of Pediatrics, Hospital Dr. Nélio Mendonça, Funchal, Portugal
  2. 2Department of Orthopedics and Traumatology, Hospital Dr. Nélio Mendonça, Funchal, Portugal
  1. Correspondence to Dr Alberto Berenguer, berenguer.alberto{at}gmail.com

Summary

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.

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