A short story

ago, I received a call from a woman who said, “Dr. Singleton, I have been told that you are interested in dwarfs.” I was momentarily taken aback, but recognizing the seriousness of the woman’s voice, I replied that as a pediatric radiologist I had a professional interest in children with bone dysplasias. She continued by saying, “My son has been diagnosed as having achondroplasia, but I believe he is a metatrophic dwarf and would like your opinion.” I invited her to bring her child to the X-ray department, and after hanging up hurriedly reviewed the available literature in my office to determine what a metatrophic dwarf [1] looked like, both physically and radiographically. Luckily, I found the reference describing the condition which had been published only a few months before and was the first description of metatrophic dwarfism. Soon the mother arrived with her child, who obviously did not bear any close physical resemblance to achondroplasia. A photograph of the youngster was made (Fig. 1), as well as radiographs of his skeleton. The mother was almost correct; the clinical and radiographic features were indeed similar to those of pseudometatrophic dwarfism or Kniest dysplasia [2]. The mother obviously had taken a great interest in her child and was well educated on the general subject of abnormally small people. Recently, over 20 years later, I was told by the pediatric resident that a 2 /2-year-old male achondroplastic dwarf had fallen down a flight of steps and needed radiographic studies for evaluation of injuries. The X-ray examination revealed no evidence of fracture but showed skeletal changes which reminded me of pseudometatrophic dwarfism or Kniest dysplasia, this being only the second case I had Edward B.Singleton A short story Pediatr Radiol (1997) 27: 452–453  Springer-Verlag 1997