Article
Autosomal dominant osteosclerosis type Stanescu: the third family.
American journal of medical genetics - 17 Jul 1995
Horovitz D D, Barbosa Neto J G, Boy R, Vargas F R, Llerena Júnior J C, de Almeida J C
Abstract excerpt
We describe a family with Stanescu osteosclerosis. The propositus and his mother were short and had cortical sclerosis of the long bones, deficient facial sinus development, cranial bone malformations, and normal intelligence. To the best of our knowledge, only two such families have been described previously. The autosomal dominant pattern of inheritance of this skeletal dysplasia is reinforced, as there are...
Topics
- Adult
- Child
- Female
- Humans
- Infant
- Male
- Osteosclerosis
- Pedigree
- Phenotype
- Radiography