Article
Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome?
Clinical genetics - 1 Jan 1992
van Maldergem L, Wetzburger C, Verloes A, Fourneau C, Gillerot Y
Abstract excerpt
A syndrome involving facial abnormalities (telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears), malformed extremities (camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity) and mental retardation is described in a girl at birth and at 11 years old. A comparison with Pashayan-Pruzansky syndrome, fetal alcohol syndrome, VATER association, Marden-Walker...
Topics
- Abnormalities, Multiple
- Face
- Female
- Fingers
- Hand Deformities, Congenital
- Humans
- Infant, Newborn
- Intellectual Disability
- Phenotype
- Syndrome