Spondylothoracic dysostosis associated with diaphragmatic hernia and camptodactyly.

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.

• Authors: J Swietliński, K Swist-Szulik, I Maruniak-Chudek, A Pyrkosz
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 13 Issue 3 Pg. 309-17 ( 2002) ISSN: 1015-8146 [Print] Switzerland
• PMID: 12416639 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnostic imaging, pathology, surgery)
• Dysostoses (diagnostic imaging, pathology, surgery)
• Female
• Hand Deformities, Congenital (pathology, surgery)
• Hernia, Diaphragmatic (pathology, surgery)
• Humans
• Infant, Newborn
• Lumbar Vertebrae (abnormalities)
• Magnetic Resonance Imaging
• Radiography
• Thoracic Vertebrae (abnormalities)