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

Bardet–Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged...

Descripción completa

Detalles Bibliográficos
Autores principales: Garcia‐Tizon Larroca, Santiago, Blagoeva Atanasova, Vangeliya, Orera Clemente, Maria, Aluja Mendez, Anna, Ortega Abad, Virginia, Perez Fernandez‐Pacheco, Ricardo, De León Luis, Juan, Gamez Alderete, Francisco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378842/
https://www.ncbi.nlm.nih.gov/pubmed/28396767
http://dx.doi.org/10.1002/ccr3.859
_version_ 1782519491068952576
author Garcia‐Tizon Larroca, Santiago
Blagoeva Atanasova, Vangeliya
Orera Clemente, Maria
Aluja Mendez, Anna
Ortega Abad, Virginia
Perez Fernandez‐Pacheco, Ricardo
De León Luis, Juan
Gamez Alderete, Francisco
author_facet Garcia‐Tizon Larroca, Santiago
Blagoeva Atanasova, Vangeliya
Orera Clemente, Maria
Aluja Mendez, Anna
Ortega Abad, Virginia
Perez Fernandez‐Pacheco, Ricardo
De León Luis, Juan
Gamez Alderete, Francisco
author_sort Garcia‐Tizon Larroca, Santiago
collection PubMed
description Bardet–Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly.
format Online
Article
Text
id pubmed-5378842
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-53788422017-04-10 Prenatal diagnosis of Bardet–Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing Garcia‐Tizon Larroca, Santiago Blagoeva Atanasova, Vangeliya Orera Clemente, Maria Aluja Mendez, Anna Ortega Abad, Virginia Perez Fernandez‐Pacheco, Ricardo De León Luis, Juan Gamez Alderete, Francisco Clin Case Rep Case Reports Bardet–Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly. John Wiley and Sons Inc. 2017-03-02 /pmc/articles/PMC5378842/ /pubmed/28396767 http://dx.doi.org/10.1002/ccr3.859 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Garcia‐Tizon Larroca, Santiago
Blagoeva Atanasova, Vangeliya
Orera Clemente, Maria
Aluja Mendez, Anna
Ortega Abad, Virginia
Perez Fernandez‐Pacheco, Ricardo
De León Luis, Juan
Gamez Alderete, Francisco
Prenatal diagnosis of Bardet–Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing
title Prenatal diagnosis of Bardet–Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing
title_full Prenatal diagnosis of Bardet–Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing
title_fullStr Prenatal diagnosis of Bardet–Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing
title_full_unstemmed Prenatal diagnosis of Bardet–Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing
title_short Prenatal diagnosis of Bardet–Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing
title_sort prenatal diagnosis of bardet–biedl syndrome in a case of hyperechogenic kidneys: clinical use of dna sequencing
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5378842/
https://www.ncbi.nlm.nih.gov/pubmed/28396767
http://dx.doi.org/10.1002/ccr3.859
work_keys_str_mv AT garciatizonlarrocasantiago prenataldiagnosisofbardetbiedlsyndromeinacaseofhyperechogenickidneysclinicaluseofdnasequencing
AT blagoevaatanasovavangeliya prenataldiagnosisofbardetbiedlsyndromeinacaseofhyperechogenickidneysclinicaluseofdnasequencing
AT oreraclementemaria prenataldiagnosisofbardetbiedlsyndromeinacaseofhyperechogenickidneysclinicaluseofdnasequencing
AT alujamendezanna prenataldiagnosisofbardetbiedlsyndromeinacaseofhyperechogenickidneysclinicaluseofdnasequencing
AT ortegaabadvirginia prenataldiagnosisofbardetbiedlsyndromeinacaseofhyperechogenickidneysclinicaluseofdnasequencing
AT perezfernandezpachecoricardo prenataldiagnosisofbardetbiedlsyndromeinacaseofhyperechogenickidneysclinicaluseofdnasequencing
AT deleonluisjuan prenataldiagnosisofbardetbiedlsyndromeinacaseofhyperechogenickidneysclinicaluseofdnasequencing
AT gamezalderetefrancisco prenataldiagnosisofbardetbiedlsyndromeinacaseofhyperechogenickidneysclinicaluseofdnasequencing

Ejemplares similares