التفاصيل البيبلوغرافية
| العنوان: |
A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia? |
| المؤلفون: |
Young, I D, Zuccollo, J M, Broderick, N J |
| المصدر: |
Journal of Medical Genetics; Feb1993, Vol. 30 Issue 2, p155-157, 3p |
| مستخلص: |
The clinical and radiological features in a baby thought to have Blomstrand chondrodysplasia are presented. The hallmarks of this rare lethal disorder are an increase in bone density and advanced skeletal maturation. A high incidence of parental consanguinity is consistent with autosomal recessive inheritance. [ABSTRACT FROM PUBLISHER] |
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| قاعدة البيانات: |
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