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.
La Grutta, A., Corsello, G., Benigno, V., Bianco, A., La Grutta, S., Giuffrè, L. (1992). Spondylo-costal dysostosis in two siblings. KLINISCHE PADIATRIE, 204(1), 48-55 [10.1055/s-2007-1025322].
Spondylo-costal dysostosis in two siblings
LA GRUTTA, Stefania;
1992-01-01
Abstract
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.
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(1)La Grutta_Klinische Padiatrie 1992_Spondylokostal.pdf
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