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Logo of jmedgeneJournal of Medical GeneticsCurrent TOCInstructions for authors
J Med Genet. Aug 1995; 32(8): 633–635.
PMCID: PMC1051639
Congenital heart disease in spondylothoracic dysostosis: two familial cases.
J M Simpson, A Cook, N L Fagg, N A MacLachlan, and G K Sharland
Department of Fetal Cardiology, Guy's Hospital, London, UK.
Two familial cases of spondylothoracic dysostosis are reported. Both cases had severe congenital heart disease in addition to the skeletal malformations which are characteristic of the condition.
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