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.
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Authors | K Kozlowski, T Donovan, J Masel, R G Wright |
Journal | Australasian radiology
(Australas Radiol)
Vol. 37
Issue 1
Pg. 111-4
(Feb 1993)
ISSN: 0004-8461 [Print] Australia |
PMID | 8323498
(Publication Type: Case Reports, Journal Article)
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Topics |
- Abnormalities, Multiple
(classification, diagnostic imaging)
- Brain
(abnormalities)
- Dwarfism
(classification, diagnostic imaging)
- Female
- Humans
- Infant, Newborn
- Microcephaly
(diagnostic imaging)
- Radiography
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