SciELO - Scientific Electronic Library Online

 
vol.19 número3Caso RadiológicoAs mães nem sempre têm boas intenções… índice de autoresíndice de assuntosPesquisa de artigos
Home Pagelista alfabética de periódicos  

Serviços Personalizados

Journal

Artigo

Indicadores

Links relacionados

  • Não possue artigos similaresSimilares em SciELO

Compartilhar


Nascer e Crescer

versão impressa ISSN 0872-0754

Nascer e Crescer v.19 n.3 Porto set. 2010

 

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.

 

Texto completo disponível apenas em PDF.

Full text only available in PDf format.

 

BIBLIOGRAFIA

1. Burgert T, Markowitz M. Understanding and recognizing pseudo hypoparathy­roidism. PediatrRev.2005;26:308–9.         [ Links ]

2. Sun L, Cui B, Zhao H, Tao B, Wang W, Li X, et al. Identification of a novel GNSA mutation for pseudohypopara­thyroidis in a Chinese family. Endocrinology.2009;36:25–9.

3. Allgrove J. The parathyroid and disorders of calcium metabolism. En: Brook C, Clayton P, Brown Roselind, editores. Brook’sClinical Pediatric Endocrinology,5ed. Oxford: Blackwell Publishing; 2005. p.263–71.

4. Eizaguirre M, Urbina I, Urzainqui M, Larreina R, Martín J. Osteodistrofia hereditária de Albright. Identificacıón de una mutacıón original en una familia. AnEspPediatr.2001;54: 598–600.

5. Yu D, Yu S, Schuster V, Kruse K, Clericuzio C, Weinstein L. Identification of two novel deletion mutation within the Gsa gene (GNSA1) in Albright Hereditary Osteodystrophy. JClinEndocrinol Metab. 1999;84:3254–9.

6. Bastepe M, Juppner H. GNSA locus and pseudohypoparathyroidism. Hor­mRes.2005;63:65–74.

7. Mariot V, Maupetit-Méhouas S, Sinding S, Kottler M, Linglart A. A maternal epimutation of the GNAS leads to Albright Osteodystrophy and parathy­roid hormone resistance. JClinEndocrinol Metab. 2008;93:661–5.

Creative Commons License Todo o conteúdo deste periódico, exceto onde está identificado, está licenciado sob uma Licença Creative Commons