Document Detail


New ocular findings in two sisters with Yunis-Varón syndrome and literature review.
MedLine Citation:
PMID:  20932945     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
The Yunis-Varón syndrome (YVS) represents a rare autosomal recessive syndrome of easy recognition characterized by cleidocraneal dysplasia, absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, and poor outcome. Here, we report two sisters with YVS who also had papillo-macular atrophic chorioretinopathy with "salt-and-pepper" appearance that could not be attributed to environmental or metabolic causes. Our best hypothesis is that the ocular findings in our two patients are part of the phenotypic manifestations of YVS. We suggest that an extensive ophthalmologic examination should be carried out in all children with YVS in order to define the frequency and nature of the ocular findings in these patients.
Authors:
J Román Corona-Rivera; Carmen O Romo-Huerta; Eloy López-Marure; Feliciano J Ramos; Sara A Estrada-Padilla; Luz Consuelo Zepeda-Romero
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Publication Detail:
Type:  Journal Article     Date:  2010-10-14
Journal Detail:
Title:  European journal of medical genetics     Volume:  54     ISSN:  1878-0849     ISO Abbreviation:  Eur J Med Genet     Publication Date:    2011 Jan-Feb
Date Detail:
Created Date:  2011-02-28     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  76-81     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Elsevier Masson SAS. All rights reserved.
Affiliation:
Servicio de Genética, División de Pediatría, Nuevo Hospital Civil de Guadalajara "Dr. Juan I. Menchaca", Hospital-Escuela, Guadalajara, Jalisco, Mexico; Instituto de Genética Humana "Dr. Enrique Corona-Rivera", Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico.
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