Genes, Crianças e Pediatras

 

Anabela Bandeira¹, Esmeralda Martins²

¹ Assistente Hospitalar de Pediatria

² Assistente Hospitalar Graduada de Pediatria. Centro Hospitalar do Porto

 

ABSTRACT

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.

 

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BIBLIOGRAFIA

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