Corona-Rivera J.R.,Servicio de Genetica |
Corona-Rivera J.R.,University of Guadalajara |
Romo-Huerta C.O.,Servicio de Oftalmologia |
Lopez-Marure E.,Servicio de Radiologia |
And 3 more authors.
European Journal of Medical Genetics | Year: 2011
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. © 2010 Elsevier Masson SAS.