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Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings.
Valdes-Flores, Margarita; Hidalgo-Bravo, Alberto; Casas-Avila, L; Chima-Galan, Carmen; Hazan-Lasri, Eric J; Pineda-Gomez, Ernesto; Lopez-Estrada, Druso; Zenteno, Juan C.
Afiliação
  • Valdes-Flores M; Department of Genetics, National Institute of Rehabilitation Mexico City, Mexico.
  • Hidalgo-Bravo A; Department of Genetics, National Institute of Rehabilitation Mexico City, Mexico.
  • Casas-Avila L; Department of Genetics, National Institute of Rehabilitation Mexico City, Mexico.
  • Chima-Galan C; Department of Genomic Medicine, National Medical Center 20th of November, ISSSTE Mexico City, Mexico.
  • Hazan-Lasri EJ; Department of Genetics, National Institute of Rehabilitation Mexico City, Mexico.
  • Pineda-Gomez E; Department of Genetics, National Institute of Rehabilitation Mexico City, Mexico.
  • Lopez-Estrada D; Department of Genetics, National Institute of Rehabilitation Mexico City, Mexico.
  • Zenteno JC; Department of Biochemistry, Faculty of Medicine, UNAM and Department of Genetics, Institute of Ophthalmology "Conde de Valenciana" Mexico City, Mexico.
Int J Clin Exp Med ; 7(11): 3915-23, 2014.
Article em En | MEDLINE | ID: mdl-25550899
Pyknodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, deformity of the skull, osteosclerosis, hypoplasia of the clavicle, and bone fragility. Radiographs show increased bone density, osteosclerosis, and acroosteolysis of the terminal phalanges. The pycnodysostosis gene is located on chromosome 1q21 and encodes an enzyme called Cathepsin K. Cathepsin K is a cysteine protease lysosomal protein associated with the degradation of bone and cartilage. In the current study, the authors described the clinical, radiological and molecular features of a group of six Mexican patients, including two familial and two sporadic cases, with Pyknodysostosis. One of the patients presented hypoacusia, an unusual finding in this disease.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Int J Clin Exp Med Ano de publicação: 2014 Tipo de documento: Article País de afiliação: México País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Int J Clin Exp Med Ano de publicação: 2014 Tipo de documento: Article País de afiliação: México País de publicação: Estados Unidos