6533b7ddfe1ef96bd1273f70
RESEARCH PRODUCT
Spondylo-costal dysostosis in two siblings
A. La GruttaS. La GruttaA. BiancoGiovanni CorselloV BenignoGiuffrè Lsubject
MalePathologymedicine.medical_specialtyRibsGenes RecessiveConsanguinityRecessive inheritancemedicineHumansAbnormalities MultipleChildGeneticsAutosomal recessive inheritanceGenetic heterogeneitybusiness.industryRibDysostosisSyndromemedicine.diseaseSpineRadiographyParental consanguinityPediatrics Perinatology and Child HealthTraitFemaleSkeletal abnormalitiesbusinessHumandescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1992-01-01 |