Title of article :
Educational Corner of the Issue
Author/Authors :
zaky, e.a. Ain Shams University - faculty of medicine - pediatric department, Egypt
Abstract :
A 1 year old male infant is brought to the pediatrician by his mother because of a copious nasal discharge and developmental delay. He is noted to have coarse features with thick lips, a large tongue, a large bulging head and a flattened nose. On examination he is found to have an enlarged liver and spleen. His perinatal history was unremarkable. He was born by normal vaginal delivery and was examined and thought to be normal at birth.
Keywords :
Facial dysmorphism , Lysosomal enzyme , Lysosomal storage disorder , MPS I , Mucopolysaccharidosis type I
Journal title :
Egyptian Journal of Medical Human Genetics
Journal title :
Egyptian Journal of Medical Human Genetics