• Title of article

    Educational Corner of the Issue

  • Author/Authors

    zaky, e.a. Ain Shams University - faculty of medicine - pediatric department, Egypt

  • From page
    103
  • To page
    106
  • 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
  • Record number

    2720960