Autor(es):
Bandeira, A. 
; Martins, E.
Data: 2010
Identificador Persistente: http://hdl.handle.net/10400.16/1067
Origem: Repositório Científico do Centro Hospitalar do Porto
Assunto(s): Osteodistrophy of Albright
Detalhes do Documento
Genes, crianças e pediatras: osteodistrofia hereditária de Albright
Descrição
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.
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.
Tipo de Documento
Artigo
Idioma Português
Idioma Português
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