Article
Costello syndrome: a postnatal growth retardation syndrome with distinct phenotype.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1994
Fryns J P, Vogels A, Haegeman J, Eggermont E, van den Berghe H
Abstract excerpt
In this report we describe two non-related patients, a 12-year-old girl and 3 6/12-year-old boy, with Costello syndrome. Costello syndrome is a true MCA/MR syndrome with severe postnatal growth retardation as the first clinical sign. Characteristic facial changes, loose, hyperelastic skin and pap...
Topics
- Abnormalities, Multiple
- Child
- Child, Preschool
- Cutis Laxa
- Dwarfism
- Facial Bones
- Female
- Humans
- Intellectual Disability
- Joint Instability
- Male
- Phenotype
- Skull
- Syndrome