Spondylothoracic dysostosis associated with diaphragmatic hernia and camptodactyly.
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.
Swietliński
J
J
Institute of Medical Biology and Human Genetics, Karl-Franzens University of Graz, Austria. kitipn.sk6@interia.pl
Swist-Szulik
K
K
Maruniak-Chudek
I
I
Pyrkosz
A
A
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology* / Q000601:surgery; D004413:Dysostoses / Q000000981:diagnostic imaging / Q000473:pathology* / Q000601:surgery; D005260:Female; D006228:Hand Deformities, Congenital / Q000473:pathology* / Q000601:surgery; D006548:Hernia, Diaphragmatic / Q000473:pathology* / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D008159:Lumbar Vertebrae / Q000002:abnormalities*; D008279:Magnetic Resonance Imaging; D011859:Radiography; D013904:Thoracic Vertebrae / Q000002:abnormalities*