Article
[Coffin-Lowry syndrome. Description of a clinical case].
La Pediatria medica e chirurgica : Medical and surgical pediatrics - 1 Jan 2000
Venura A, Ferrari P, Benci E, Grando A
Abstract excerpt
A case of Coffin-Lowry syndrome is reported. Severe mental retardation is associated with characteristic craniofacial anomalies, short stature and "soft hands". X-linked inheritance is supposed.
Topics
- Abnormalities, Multiple
- Body Height
- Child, Preschool
- Facial Bones
- Hand Deformities, Congenital
- Humans
- Intellectual Disability
- Male
- Phenotype
- Skull
- Syndrome