A congenital malformation syndrome – situs inversus, esophageal atresia

Sylwia Potępa-Kowalczyk, Agata Dobrowolska, Małgorzata Domagalska-Szopa, Andrzej Szopa

S. Potępa-Kowalczyk, A. Dobrowolska, M. Domagalska-Szopa, A. Szopa – A congenital malformation syndrome – situs inversus, esophageal atresia. Fizjoterapia Polska 2021; 21(4); 122-125

Abstract
Introduction. In case of a congenital malformation syndrome, a correct diagnosis is made on the basis of characteristic features. Situs inversus is a rare congenital condition. Its incidence with concomitant esophageal atresia is very low. Both disorders in body laterality formation and agenesis of esophagus might accompany various congenital malformations. When multiple defects are present, standard treatment options are unavailable.
Case Report. A child was diagnosed with a 45XX, rob(13,14)(q10,q10) karyotype and a congenital malformation syndrome including: situs inversus with dextrocardia, esophageal atresia with tracheoesophageal fistula, hydrocephaly, right lung hypoplasia, and atrial septal defect. As of now, an official clinical diagnosis of the child has not been confirmed.
Conclusions.  Treating this type of malformation syndrome is always challenging and requires an interdisciplinary approach. Comprehensive care provided to a child with congenital malformation syndrome should include treatment of the present disorders as well as prevention of possible complications.
Key words:
situs inversus, esophageal atresia, multiple defects, congenital malformation syndrome, dextrocardia
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