Article
Pitt-Rogers-Danks syndrome: further delineation.
American journal of medical genetics - 13 Feb 1995
Lizcano-Gil L A, García-Cruz D, García-Cruz O, Sánchez-Corona J
Abstract excerpt
The Pitt-Rogers-Danks syndrome is an entity characterized by proportionate short stature and low weight of prenatal onset, moderate to severe mental retardation, seizures, and typical facial changes including microcephaly, telecanthus, upward or downward slanting palpebral fissures, prominent eyes, ocular abnormalities, hypoplastic maxilla, short philtrum, and large mouth. This is the seventh reported case, and...
Topics
- Abnormalities, Multiple
- Child, Preschool
- Face
- Genes, Dominant
- Growth Disorders
- Humans
- Intellectual Disability
- Male
- Mutation
- Optic Atrophy
- Syndrome