SINDROM ROBINOW – CLINICAL SIGNS FROM BIRTH

Robinow syndrome, also known as “facies fetal” syndrome, is a rare genetic syndrome – Incidence is 1 in 500,000 cases. The general characteristics are represented by short stature and various abnormalities of the head, face, heart and skeleton, as well as developmental disorders of the external genitalia. We present a three-year-old male child who presents with short stature, brachydactyly, facial dysmorphism (hypertelorism, micrognathia, widened nasal bridge, small nose), scaphocephaly (closed anterior fontanelle at 9 months), hypoplastic scrotum and testicles. Due to the involvement of the physical presentation it was diagnosed as autosomal dominant Robinow syndrome, type 3, after genetics consultation soon after birth. He is now on follow up and planned for a treatment with rhGH after 4 yers old.