| Literature DB >> 8323498 |
K Kozlowski1, T Donovan, J Masel, R G Wright.
Abstract
A case of microcephalic, osteodysplastic, primordial dwarfism (cephaloskeletal dysplasia of Taybi and Linder) is reported. This rare disease is characterised by unique clinical appearances and diagnostic radiographic findings. It is also associated with distinctive brain abnormalities. The latter include micrencephaly, lissencephaly, corpus callosum aplasia/agenesis and unusual histological brain abnormalities.Entities:
Mesh：
Year: 1993 PMID： 8323498 DOI： 10.1111/j.1440-1673.1993.tb00029.x
Source DB: PubMed Journal: Australas Radiol ISSN： 0004-8461