A RARE CASE OF COMBINATION OF EDWARDS AND PIERRE ROBAIN SYNDROME IN A NEWBORN
DOI:
https://doi.org/10.11603/24116-4944.2022.2.13445Keywords:
heredity, Edwards syndrome, P. Roben, multiple developmental defectsAbstract
Here is an example of a rare combination of Jedvars syndrome and Pierre Robin syndrome. If the first syndrome did not give any chance for a positive prognosis for the child's life, then the second, after surgical correction of developmental defects, was favorable for the further life of the baby. Such combinations of these syndromes are not described in the available literature. Among the described multiple malformations of the skeleton of a child with this syndrome, we found previously undescribed deformations – aplasia of the tibia, hypoplasia of the kneecaps, severe deformations of the lower legs – anticurvature, hypoplasia of the posterior group of lower leg muscles. Perhaps a greater number of clinical observations of such a combination of these diseases will be the basis for distinguishing a new nosological unit of hereditary disease.
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