LIPOCHONDRODYSTROPHY

Publisher Website
Google Scholar
Abstract
Lipochondrodystrophy is a rare disease of congenital origin and uncertain cause. It is characterized by chondrodystrophic changes in the skeleton and deposition of a lipid-like substance in many of the body tissues, including the cornea. The first signs of the disease usually appear toward the end of the first year of life, when dorsolumbar kyphosis and enlargement of the head make their appearance. As the condition progresses numerous developmental failures appear. The child learns to walk, talk and feed itself at a later age than normal. By the age of 4 years normal growth has usually ceased, and the complete picture of the disease has become apparent. The head is enlarged ; the face shows wide-set, protuberant eyes and a saddle nose and there is thickening of the lips and tongue. The neck is very short and the chest poorly developed. There are a protuberant abdomen, with an umbilical hernia, and

This publication has 0 references indexed in Scilit: