Article
A familial syndrome with micrognathia, cleft palate, short neck and stature, vertebral anomalies and mental retardation.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1993
Mathieu M, De Broca A, Bony H, Piussan C
Abstract excerpt
We report on a male adult and his son both affected with hitherto undescribed multiple congenital anomalies and mental retardation. Both have peculiar facies, cleft palate, short sature, congenital brevicollis and vertebral abnormalities. Chromosomal analysis is normal and an autosomal dominant mode of inheritance is most likely. Genetic aspects and clinical manifestations are compared with those of previous...
Topics
- Abnormalities, Multiple
- Adult
- Cervical Vertebrae
- Child, Preschool
- Cleft Palate
- Facial Asymmetry
- Humans
- Intellectual Disability
- Male
- Micrognathism
- Pedigree