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Spondylo-Costal Dysostosis in two siblings

Articolo
Data di Pubblicazione:
1992
Abstract:
Two new cases of Spondylo-Costal Dysostosis (SCD) are reported in two siblings with strikingly similar skeletal abnormalities. Parenteral 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.
Tipologia CRIS:
01.01 Articolo in rivista
Elenco autori:
LA GRUTTA, Stefania
Link alla scheda completa:
https://iris.cnr.it/handle/20.500.14243/258043
Pubblicato in:
KLINISCHE PADIATRIE
Journal
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