Simpson J M, Cook A, Fagg N L, MacLachlan N A, Sharland G K
Department of Fetal Cardiology, Guy's Hospital, London, UK.
J Med Genet. 1995 Aug;32(8):633-5. doi: 10.1136/jmg.32.8.633.
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.
报告了两例脊椎胸廓发育不良的家族病例。除了具有该病特征性的骨骼畸形外,两例均患有严重的先天性心脏病。