Pycnodysostosis – late diagnosis by skull tomography

Solapas principales

 

Maranha L.1, Galdino J.2, Rodrigues D.2, Demartini Z.1, Luis G.3

 

ABSTRACT:

 

Pycnodysostosis is an autosomal recessive osteochondrodysplasia usually diagnosed in childhood. There are few reports on the subject, focusing on the syndrome´s genetic and dental diagnosis. We present a patient incidentally diagnosed at 74 years old, based on cranial tomography with classic clinical features of this rare disease.

 

Key Words:Pycnodysostosis, Osteochondrodysplasias; Cranial sutures; Acro-steolysis; Maxillofacial abnormalities; Bone resorption.

 

  


  1.  Neurocirujano y Neuroradiólogo Intervencionista
  2. Residente en Neurocirugía
  3. Jefe de Neurorradiología Intervencionista

Hospital Universitario Cajuru - Pontificia Universidad Católica de Paraná - Curitiba, Brasil

 

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