We report two unrelated infants with cephaloskeletal dysplasia or Taybi-Linder syndrome, also referred to as osteodysplastic primordial dwarfism Type III. They presented with peculiar facial features, microcephaly and skeletal and cerebral abnormalities documented radiographically and with cranial MRI and/or CT. Some dissimilarities were observed in the skeletal findings between the two patients, most likely reflecting phenotypic variability within the same disorder. Some radiographic features were shown to evolve with time in both patients. Also of interest is the unusually long survival of these patients, more than 4 years in the first and of over 6 years in the second.

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MRI is a potentially useful tool for evaluating the bone changes of renal osteodystrophy.

In a 12 years, 10 months-old-girl with severe nanism we observed bone changes of unusual spondylo-epi-metaphyseal dysplasia (S.E.M.D.). The metaphyseal and epiphyseal changes in the long bones were symmetrical and mostly rhizomelic - with the involvement of the iliac bones, tarsal bones with irregular lesions and disproportionally long fibulae; these changes confirm the heterogeneity of the disease.