Microcephalic, osteodysplastic, primordial dwarfism.
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.
Kozlowski
K
K
Department of Radiology, Royal Alexandra Hospital for Children, Sydney, Australia.
Donovan
T
T
Masel
J
J
Wright
R G
RG
D000015:Abnormalities, Multiple / Q000145:classification / Q000000981:diagnostic imaging*; D001921:Brain / Q000002:abnormalities*; D004392:Dwarfism / Q000145:classification / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008831:Microcephaly / Q000000981:diagnostic imaging*; D011859:Radiography