Archana S. Kher

Deletion of short-arm of chromosome 20:46 XX, del (20) (p 11) with unusual skeletal features.

Chromosomal anomalies in the form of deletions are suspected when the patient presents wiih multiple congenital anomalies. At least 6 cases of deletion 20p (11) have been reported in literature. We present a 6�89 year old female child with the same chromosomal anomaly. This case was detected to have certain unusual and striking skeletal abnormalities on radiography.

Mucolipidoses—II: a report of three cases

Mucolipidoses II is a rare lysosomal storage disorder with autosomal recessive inheritance. There cases with typical clinical features in early infancy like coarse facial features, severe psychomotor retardation and joint contractures are being reported. All the cases had no mucopolysacchariduria. These cases had normal values of lysosomal enzymes in leucocytes but markedly increased values in serum thus confirming mucolipidoses II. Despite the fact that there is no specific treatment, genetic counselling and prenatal diagnosis is indicated.

Storage disorders presenting like mucopolysacchridosis

The term dysostosis multiplex is specifically applied to the group of radiological features collectively found in a number of specific metabolic disorders including the mucopolysaccharidoses, mucolipidosis, mannosidosis, fucosidosis and several other rarer conditions.We report eight cases of mannosidosis, fucosidosis and mucolipidosis with special emphasis on the differentiation from the more common mucopolysaccharidoses.