Title: A Hallmark of Progressive Diagnosis: Robinow Syndrome Identified By Clinical and Radiological Examination
Authors: Iraj Alam Khan, Uzma Firdaus, Syed Manazir Ali
DOI: http://dx.doi.org/10.18535/jmscr/v3i12.48
Abstract
Robinow syndrome also known as ‘fetal facies’ is a rare inherited disorder characterized by short stature due to mesomelic shortening of limbs, distinctive craniofacial, skeletal and genital abnormalities. It can have both autosomal recessive and autosomal dominant inheritance. The diagnosis depends on good clinical examination and radiological study. Prenatal diagnosis of Robinow syndrome can be made through fetal ultrasound examination. The treatment involves surgery, orthotics and hormone replacement and the prognosis remains reasonably good. Here we present a preterm newborn with typical dysmorphic facies and other congenital abnormalities characteristic of Robinow syndrome.
Keywords: Robinow syndrome, fetal facies, mesomelic limb shortening, hemivertebrae, genital hypoplasia
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