Article
A syndrome of facial dysmorphia, birth defects, myelodysplasia and immunodeficiency in three sibs of consanguineous parents.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1994
Stoll C, Alembik Y, Lutz P
Abstract excerpt
We report on three sibs (two females, one male) with a syndrome including physical and mental developmental delay, facial dysmorphia, an increased number of skin folds and recurrent infections. Pulmonary infections were especially severe and frequent, leading to bronchiectasis. Steatorrhea was in...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Child
- Child, Preschool
- Consanguinity
- Facial Bones
- Female
- Follow-Up Studies
- Heart Defects, Congenital
- Humans
- Immunologic Deficiency Syndromes
- Infant
- Intellectual Disability
- Karyotyping
- Leukemia, Myeloid, Acute
- Male
- Neural Tube Defects