RT Journal Article
SR Electronic
T1 Osteoglophonic dwarfism in two generations.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 436
OP 440
DO 10.1136/jmg.20.6.436
VO 20
IS 6
A1 Kelley, R I
A1 Borns, P F
A1 Nichols, D
A1 Zackai, E H
YR 1983
UL http://jmg.bmj.com/content/20/6/436.abstract
AB A father and son, both affected by a skeletal dysplasia with severe craniofacial deformities, are reported and compared to three previously described isolated cases of the same dwarfism. The principal features are craniosynostosis, multiple lucent metaphyseal defects, flattening and anterior beaking of the vertebral bodies, and abnormal dentition. Autosomal dominant inheritance is suggested.