J Korean Pediatr Soc.
1980 Sep;23(9):748-752.
Spondylometaphyseal Dyslpasia
- Affiliations
-
- 1Department of Pediatrics, orthopedics and X-ray, Yonsei University College of Medicine, Seoul, Korea.
Abstract
- There sibs with identical features of short-limbed dwarfism, a normal skull and face and normal intelligence are described. On the basis of the radiological and clinical characteristics, the condition must be included within the group of Spondylomephyseal dysplasia. In contract to the familial cases described up to now in which the mode of inheritance was autosomal dominant, the trait in the three children described here was transmitted as autosomal recessive.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Coxa Vara with Spondylometaphyseal Dysplasia
- A Case of Spondylometaphyseal Dysplasia ( Kozlowski type )
- Coxa Vara with Spondylometaphyseal Dysplasia
- Clinical Analysis of Short Stature
- Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation
