Article
Inter- and intrafamilial variability in mucolipidosis II (I-cell disease).
Clinical genetics - 1 Apr 1995
Beck M, Barone R, Hoffmann R, Kratzer W, Rakowsky T, Nigro F, Fiumara A
Abstract excerpt
In this paper nine patients with mucolipidosis II (I-cell disease) are described. They had clinical features commonly found in mucolipidosis II, including disproportionate dwarfism, coarse facial features and mental retardation. However, there was remarkable variability in age of onset, organ manifestation and radiological findings. Some had unusual clinical symptoms including pericardial effusion and profound...
Topics
- Age of Onset
- Child, Preschool
- Dwarfism
- Face
- Female
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability
- Magnetic Resonance Imaging
- Male
- Mucolipidoses