Article
Skeletal dysplasias with gracile bones: three new cases, including two offspring of a mother with a dwarfing condition.
American journal of medical genetics - 5 Mar 1998
Costa T, Azouz E M, Fitzpatrick J, Kamel-Reid S, Smith C R, Silver M M
Abstract excerpt
We describe 3 new cases of a rare form of dwarfism (so-called "lethal skeletal dysplasia with gracile bones" or "osteocraniostenosis"), a condition characterized by thin, brittle bones and death in late gestation or early neonatal life. The first was a 37-week gestation female who died at deliver...
Topics
- Adult
- Alleles
- Bone Diseases, Developmental
- Craniofacial Abnormalities
- DNA
- Dwarfism
- Female
- Fetal Death
- Gestational Age
- Hand Deformities
- Homeodomain Proteins
- Humans
- Male
- Mosaicism
- Oncogene Proteins
- Pregnancy
- Pregnancy Trimester, Third
- Proto-Oncogene Proteins