Síndrome de Robinow e otorrinolaringologia - A propósito de um caso clínico

Abstract

Robinow Syndrome is a rare genetic disease with fewer than 200 affected people reported worldwide. Characterized by mesomelic limb shortening, short stature, genital hypoplasia and a fetal facies, its inheritance can be both autosomal recessive and dominant.This paper describes the clinical case of a child with post-natal diagnosis of isolated autosomal dominant Robinow Syndrome. At 12 years of age otorhinolaryngological anomalies included a frontal bossing, short nose with a large nasal bridge, midface hypoplasia, repaired cleft palate and bilateral conductive hearing loss.Robinow Syndrome is a genetically heterogeneous condition that can be easily diagnosed in early childhood or even at pre-natal evaluation. Otorhinolaryngological follow-up and intervention improve these children development and life quality.