American Journal of Medical Genetics Part A: Volume 155, Number 5, May 2011


In his 1892 monograph “Studies on the so-called fetal rickets” [1892] (Untersuchungen über die sogenannte foetale Rachitis, chondrodystrophia foetalis, Verlag von Georg Reimer, Berlin, Germany), Eduard Kaufmann described the pathological and histological changes he observed in 13 newborns with lethal chondrodysplasias. Kaufmann recognized the heterogeneity present within his chondrodystrophic group. His case XIII was a newborn with “an overlong trunk with short extremities and grotesquely hypertrophic, mushroom-like epiphyses” as shown in the Figure. He regarded that condition as distinct and called it “hyperplastic chondrodystrophy”. The clinical description and the drawing of the femur leave little doubt as to the diagnosis of lethal metatropic dysplasia.