Robinow syndrome
case report
DOI:
https://doi.org/10.29327/2396527.65.65-5Keywords:
Robinow syndrome, musculoskeletal abnormalitiesAbstract
Robinow Syndrome is a rare genetic disease, autosomal dominant or recessive, due to mutations in the WNT5A and ROR 2 genes with short stature, genitourinary changes, facial changes and important musculoskeletal abnormalities, such as mesomelic or acromelic shortening of limbs, brachydactyly, clinodactyly, vertebral anomalies such as hemivertebrae with fusion of thoracic vertebrae and short stature. The objective of this paper is to report a rare case of Robinow Syndrome.
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