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J Med Genet. 1995 August; 32(8): 633–635.
PMCID: PMC1051639

Congenital heart disease in spondylothoracic dysostosis: two familial cases.


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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Selected References

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  • Karnes PS, Day D, Berry SA, Pierpont ME. Jarcho-Levin syndrome: four new cases and classification of subtypes. Am J Med Genet. 1991 Sep 1;40(3):264–270. [PubMed]
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