Blepharofacioskeletal syndrome and Schilbach-Rott syndrome are the same disorder: another case
Different disorders have blepharophimosis as a major feature. Blefarofacioskeletal (BFS) syndrome was the term used, in 1993, to name a newly recognised autosomal dominant condition, which included blepharophimosis and facial anomalies together with mild abnormalities of the hands and feet. In 2002, following the report of two families whose members had similar facial appearance and features of cleft palate, hypotelorism, and hypospadia, this condition was named Schilbach-Rott syndrome. The review of pictures and clinical aspects of patients with BFS syndrome and Schilbach-Rott syndrome called attention to their similar facial appearance and led us to believe that they are likely to be a phenotype variation of the same condition. The main aspects of this condition are blepharophimosis, some form of abnormal palate and mild skeletal anomalies in the hands or feet. Some degree of hypospadia may be an associated anomaly in affected males. This condition is probably autosomal dominant and its variable phenotype becomes milder in adults. We report another case of a four-year-old affected girl to better delineate this syndrome, which should be remembered in the differential diagnosis of any disorder which has blepharophimosis. In this work, we make a comparison between previously described cases of Schilbach-Rott and BFS syndrome and our present case, suggesting that both syndromes are variable expressions of a same condition.