Blomstrand chondrodysplasia:: a lethal sclerosing skeletal dysplasia -: Case report and review

被引：4
作者：
Galera, MF
Patrício, FRD
Lederman, HM
Porciúncula, CGG
Monlleo, IL
Brunoni, D
机构：
[1] Univ Fed Sao Paulo, Dept Morphol, Discipline Genet, BR-04023900 Sao Paulo, Brazil
[2] Univ Fed Sao Paulo, Dept Pathol, Discipline Med Pathol, BR-04023900 Sao Paulo, Brazil
[3] Univ Fed Sao Paulo, Dept Diagnost Imaging, BR-04023900 Sao Paulo, Brazil
[4] Fed Univ Alagoas, Dept Biol, Maceio, Alagoas, Brazil
来源：
PEDIATRIC RADIOLOGY | 1999年 / 29卷 / 11期
关键词：
D O I：
10.1007/s002470050709
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
We report a female stillborn with typical clinical, radiological, and anatomopathological features of Blomstrand chondrodysplasia. The main findings in this lethal osteochondrodysplasia are osteosclerosis and advanced skeletal maturation. Autosomal recessive inheritance has been proposed because of parental consanguinity of affected siblings in all reported cases, including this one. Histopathological study of the bones confirmed the advanced skeletal maturation radiological features. We also review this rare lethal osteochondrodysplasia.
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页码：842 / 845
页数：4
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