Robinow Syndrome and otorhinolaryngoly - A case report
DOI:
https://doi.org/10.34631/sporl.600Keywords:
Robin Syndrome, facial dysmorphism, conductive hearing lossAbstract
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.
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