A new skeletal dysplasia syndrome with dwarfism, craniofacial anomalies, and unique radiographic findings
โ Scribed by Jones, Kenneth Lee ;Jones, Kenneth Lyons ;Miller, Kenneth ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1986
- Tongue
- English
- Weight
- 360 KB
- Volume
- 23
- Category
- Article
- ISSN
- 0148-7299
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โฆ Synopsis
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.
๐ SIMILAR VOLUMES
We describe a brother and sister with a unique combination of skeletal findings including camptodactyly (phalangeal dislocations), facial anomalies, neonatal respiratory problems, and feeding problems due to poor suck. Metaphyseal splaying, osteopenia, endosteal bone apposition, campomelia, and mult