Spondylothoracic dysostosis associated with diaphragmatic hernia and camptodactyly
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Published on: February 11, 2022
J Swietliński1, K Swist-Szulik, I Maruniak-Chudek
1Institute of Medical Biology and Human Genetics, Karl-Franzens University of Graz, Austria. kitipn.sk6@interia.pl
Abstract:
We present a case of a female newborn with a combination of congenital diaphragmatic hernia, skeletal defects, craniofacial dysmorphism, dextrocardia and persistent ductus arteriosus, and normal female karyotype. History of family and pregnancy-labour were non-contributory. The findings in the present patient are most compatible with the diagnosis of a spondylothoracic dysostosis with a set of uncommon anomalies.
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