Article
Griscelli's syndrome: clinical features of three siblings.
The Turkish journal of pediatrics - 1 Jan 2000
Sanal O, Küçükali T, Ersoy F, Tinaztepe K, Göğüş S
Abstract excerpt
Three siblings diagnosed as having Griscelli's syndrome (GS) are presented. The clinical features were partial albinism, silvery hair and absence of giant granules in the white blood cells. The diagnosis of GS was confirmed intra-vitam in the youngest sibling (propositis) at the age of nine month...
Topics
- Albinism
- Chediak-Higashi Syndrome
- Child
- Fatal Outcome
- Female
- Humans
- Immune System Diseases
- Infant
- Male
- Pedigree
- Phenotype
