Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia. Case report and review.
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.
Galera
M F
MF
Discipline of Genetics, Department of Morphology, Universidade Federal de Saão Paulo, Rua Botucatu, 740, Vila Clementino, CEP 04023-900 Saão Paulo, SP, Brazil.
de Silva Patrício
F R
FR
Lederman
H M
HM
Porciúncula
C G
CG
Lopes Monlleo
I
I
Brunoni
D
D
D000328:Adult; D003241:Consanguinity; D005260:Female; D005313:Fetal Death / Q000235:genetics; D005804:Genes, Lethal; D005808:Genes, Recessive; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010026:Osteosclerosis / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011859:Radiography