Link: http://www.ncbi.nlm.nih.gov/pubmed/24666313

Congenit Anom (Kyoto). 2014 Aug;54(3):189-92. doi: 10.1111/cga.12052.

Spondylocostal dysostosis with tetralogy of Fallot and herniation of the spleen through the diaphragm.
Nagasawa H1, Koyama T, Sasai H, Kohno Y, Yamamoto Y, Kondo M, Sugawara M, Terazawa D, Miura R.
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Abstract
Spondylocostal dysostosis (SCD) is a very rare syndrome characterized by vertebral malformation and rib deformity. Some of the patients with SCD have other birth defects in the central nervous system, the genitourinary tract, diaphragm or heart and so forth. There have been reported SCD with complex congenital heart disease, such as pulmonary atresia, double outlet right ventricle, and d-transposition of great arteries. However, there have been no reported SCD patients with confirmed tetralogy of Fallot (TOF). Here, a patient with SCD having a very rare combination of rib defects on the right side and left-sided scoliosis, tetralogy of Fallot, and diaphragmatic spleen herniation, which had not been reported before, was described.

© 2014 Japanese Teratology Society.

KEYWORDS:
Jarcho-Levin syndrome; diaphragmatic herniation; spondylocostal dysostosis; tetralogy of Fallot; unilateral rib defect
PMID: 24666313 [PubMed - indexed for MEDLINE]