La Grutta A, Corsello G, Benigno V, Bianco A, La Grutta S, Giuffrè L
Clinica Pediatrica B, University of Palermo.
Klin Padiatr. 1992 Jan-Feb;204(1):48-55. doi: 10.1055/s-2007-1025322.
Two new cases of Spondylo-Costal Dysostosis (SCD) are reported in two siblings with strikingly similar skeletal abnormalities. Parental consanguinity documents in this family an autosomal recessive inheritance of trait. Clinical variability of SCD is discussed on the basis of clinical and radiological features. Its genetic heterogeneity is pointed out even considering the occurrence of cases with autosomal dominant as well as recessive inheritance.
本文报告了两例患有脊柱肋骨发育不良（SCD）的新病例，这两名患者为同胞兄妹，骨骼异常极为相似。该家族存在父母近亲通婚现象，证明了该性状的常染色体隐性遗传。基于临床和放射学特征，讨论了SCD的临床变异性。即使考虑到常染色体显性和隐性遗传病例的出现，也指出了其基因异质性。
