Congenital heart disease in spondylothoracic dysostosis: two familial cases

J M Simpson; A Cook; N L Fagg; N A MacLachlan; G K Sharland

doi:10.1136/jmg.32.8.633

Congenital heart disease in spondylothoracic dysostosis: two familial cases

J Med Genet. 1995 Aug;32(8):633-5. doi: 10.1136/jmg.32.8.633.

Authors

J M Simpson¹, A Cook, N L Fagg, N A MacLachlan, G K Sharland

Affiliation

¹ Department of Fetal Cardiology, Guy's Hospital, London, UK.

Abstract

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.

Publication types

Case Reports

MeSH terms

Abortion, Induced
Adult
Dysostoses / complications
Dysostoses / embryology
Dysostoses / genetics*
Female
Fetus
Heart Defects, Congenital / complications
Heart Defects, Congenital / embryology
Heart Defects, Congenital / genetics*
Humans
Pregnancy
Spinal Diseases / complications
Spinal Diseases / embryology
Spinal Diseases / genetics*