Prenatal diagnosis of Bardet–Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of <scp>DNA</scp> sequencing

  1. Garcia‐Tizon Larroca, Santiago 1
  2. Blagoeva Atanasova, Vangeliya 1
  3. Orera Clemente, Maria 1
  4. Aluja Mendez, Anna 1
  5. Ortega Abad, Virginia 1
  6. Perez Fernandez‐Pacheco, Ricardo 1
  7. De León Luis, Juan 1
  8. Gamez Alderete, Francisco 1
  1. 1 Fetal medicine unit Department of Obstetrics and Gynaecology Hospital General Universitario Gregorio Marañon Madrid Spain
Revista:
Clinical Case Reports

ISSN: 2050-0904,  2050-0904

Año de publicación: 2017

Volumen: 5

Número: 4

Páginas: 449-453

Tipo: Artículo

DOI: 10.1002/CCR3.859 GOOGLE SCHOLAR lock_openAcceso abierto editor

Otras publicaciones en: Clinical Case Reports

Resumen

Bardet–Biedl syndrome (BBS) is a ciliopathy that is responsible for multiplevisceral abnormalities. This disorder is defined by a combination of clinicalsigns, many of which appear after several years of development. BBS may besuspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly

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