Article
Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism.
Clinical dysmorphology - 1 Apr 2000
Devriendt K, Keymolen K, Roelen L, Van Goethem G, Meireleire J, Fryns J P
Abstract excerpt
We present an adult female patient with a so far unreported syndrome of severe short stature, severe mental retardation, facial dysmorphism and hyperphalangy of the index fingers. Parental consanguinity suggests an autosomal recessive inheritance.
Topics
- Adult
- Body Height
- Facial Bones
- Facies
- Female
- Fingers
- Genes, Recessive
- Hand Deformities, Congenital
- Humans
- Intellectual Disability
- Karyotyping
- Phenotype