Kozlowski K, Donovan T, Masel J, Wright R G
Department of Radiology, Royal Alexandra Hospital for Children, Sydney, Australia.
Australas Radiol. 1993 Feb;37(1):111-4. doi: 10.1111/j.1440-1673.1993.tb00029.x.
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.
报告了一例小头畸形、骨发育不良的原始侏儒症（泰比和林德的头骨骼发育异常）。这种罕见疾病具有独特的临床表现和诊断性影像学特征。它还伴有独特的脑部异常。后者包括小脑畸形、无脑回畸形、胼胝体发育不全/缺失以及不寻常的脑组织学异常。
