A 10-year-old girl with low birthweight dwarfism, slow growth and mental development, peculiar facies, bilateral cataract, mental retardation, and the radiographic changes of metaphyseal and epiphyseal bone dysplasia is described.
We suggest that this case may represent a new, hitherto undescribed, syndrome.
Kozlowski K, Rafinski T, Kucharska K. Metaphyseal and Epiphyseal Dysplasia With Unusual Facies and Cataract. Am J Dis Child. 1973;125(4):553-556. doi:10.1001/archpedi.1973.04160040057012