RT Journal Article
SR Electronic
T1 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.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 505
OP 507
DO 10.1136/jmg.35.6.505
VO 35
IS 6
A1 Elçioglu, N
A1 Hall, C M
YR 1998
UL http://jmg.bmj.com/content/35/6/505.abstract
AB 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.