Craniofacial anthropometric studies in Waardenburg syndrome type I
✍ Scribed by Elias O. Da-Silva; Jose E. M. Batista; Marco A. B. Medeiros; Sônia M. S. Fonteles
- Book ID
- 115091384
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 596 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0009-9163
No coin nor oath required. For personal study only.
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Waardenburg syndrome (WS) types I, II, and III (McKusick #14882, #19351, and #19350) are related autosomal dominant disorders characterized by sensorineural hearing loss, dystopia canthorum, pigmentary disturbances, and other developmental defects. Disease causing PAX3 mutations have been identified
Craniofacial anthropometric analysis is a generally accessible technique that potentially offers an objective tool to reduce the subjectivity of syndrome diagnosis and to aid in differential diagnosis. The chondrodysplasias might seem an unlikely target for this technique in that they mainly cause d