Article
Grebe syndrome: clinical and radiographic findings in affected individuals and heterozygous carriers.
American journal of medical genetics - 17 Feb 1998
Costa T, Ramsby G, Cassia F, Peters K R, Soares J, Correa J, Quelce-Salgado A, Tsipouras P
Abstract excerpt
Grebe syndrome is a recessively inherited acromesomelic dysplasia. We studied, clinically and radiographically, 10 affected individuals, originating from Bahia, Brazil. The phenotype is characterized by a normal axial skeleton and severely shortened and deformed limbs, with a proximo-distal gradi...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Arthrography
- Bone Morphogenetic Proteins
- Child
- Dwarfism
- Female
- Foot Deformities, Congenital
- Genetic Carrier Screening
- Growth Differentiation Factor 5
- Growth Substances
- Hand Deformities, Congenital
- Humans
- Joints