New skeletal dysplasia with unique brachydactyly
β Scribed by Mononen, Tarja K. ;Karnes, Pamela S. ;Senac, Melvin O. ;Falk, Rena E.
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 748 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0148-7299
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π SIMILAR VOLUMES
We report on a boy from a consanguinous marriage who has a unique skeletal dysplasia, marked dwarfism, mild developmental delay, eye abnormalities, and cranofacial and skeletal changes that have not been described previously.
## Abstract We present a 27βyearβold girl with short trunk stature, generalized rectangular platyspondyly and strike precocious calcification of costal cartilage. She had also brachydactyly, small nails, strabismus and delay of menarche. Her 16βyearβold sister had also short trunk stature with seve