A lethal skeletal dysplasia with features of chondrodysplasia punctata and osteogenesis imperfecta: an example of Astley-Kendall dysplasia. Further delineation of a rare genetic disorder.
AUTOR(ES)
Elçioglu, N
RESUMO
An unusual osteochondrodysplasia presenting with lethal neonatal short limbed dwarfism, defective ossification, and punctate calcification within cartilage is presented. The features resemble four cases previously described with Astley-Kendall dysplasia.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1051347Documentos Relacionados
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