文章基本信息

标题：Genes, Crianças e Pediatras
本地全文：下载
作者：Bandeira, Anabela ; Martins, Esmeralda
期刊名称：Nascer e Crescer - Revista do Hospital de Crianças Maria Pia
印刷版ISSN：0872-0754
出版年度：2010
卷号：19
期号：3
页码：180-181
出版社：Hospital de Crianças Maria Pia - Centro Hospitalar do Porto
摘要：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.
其他摘要：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.