Abstract
Robinow syndrome is a rare autosomal dominant or recessive genetic disorder characterized by typical facial appearence fetal face mesomelic brachymelia and genital hypoplasia An 8 month old girl admitted with short stature and brachydactylia was diagnosed as Robinow syndrome on the grounds of the following findings: fetal face appearence consisting of macrocephalia hypertelorism facial hypoplasia small upturned nose triangular mouth and micrognathia mesomelic brachymelia arch anomalies in all thoracic vertebrae and ribs with fusion anomalies and genital hypoplasia Magnetic resonance imaging of the spine revealed syringomyelia Key words: nbsp;Robinow Syndrome Fetal Face Syndrome Syringomyelia Autosomal Recessive Inheritance Costo Vertebral Anomalies
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