Document details

Genes, crianças e pediatras: osteodistrofia hereditária de Albright

Author(s): Bandeira, A. cv logo 1 ; Martins, E. cv logo 2

Date: 2010

Persistent ID: http://hdl.handle.net/10400.16/1067

Origin: Repositório Científico do Centro Hospitalar do Porto

Subject(s): Osteodistrophy of Albright


Description
A 11 month-old-year boy presented with moon shaped face, limb shortening, deformity of hands and feets, low stature with weight on percentile 95, without macrocephaly. Analytically he presented with hypocalcaemia, hyperphosphatasemia and high parathormone. The skeleton x-ray did not show bone dysplasia. The typical phenotype led to the diagnosis of Osteodistrophy of Albright.
Document Type Article
Language Portuguese
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