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Clinical-radiological approach for the diagnosis of cleidocranial dysplasia in adults: A familial cases series.

Javier Ignacio Segovia-FuentesJorge Armando Egurrola-PedrazaEdgar Junior Castro-MendozaEder Cano-PérezDoris Esther Gómez-CamargoDacia Isabel Malambo-García
Published in: Clinical case reports (2021)
Cleidocranial dysplasia is a rare disease with an autosomal-dominant inheritance that mainly affects the bones of the axial skeleton. In this report, we discuss the clinical and radiological signs of a case series comprising three sisters and the son of one of the sisters, all with suspected bone dysplasia.
Keyphrases
  • bone mineral density
  • pulmonary embolism
  • early onset
  • postmenopausal women
  • dna methylation
  • bone loss