Postaxial acrofacial dysostosis: Report of a Brazilian patient
โ Scribed by Richieri-Costa, A. ;Guion-Almeida, M. L.
- Publisher
- John Wiley and Sons
- Year
- 1989
- Tongue
- English
- Weight
- 291 KB
- Volume
- 33
- Category
- Article
- ISSN
- 0148-7299
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๐ SIMILAR VOLUMES
The Nager syndrome is the most common form of acrofacial dysostosis. Although autosomal dominant and recessive forms of acrofacial dysostosis have been described the molecular etiology of these disorders is unknown. We report on a child with acrofacial dysostosis, critical aortic stenosis, and a del
We report on a Brazilian girl, born to a diabetic mother, and presenting with atypical prefpostaxial acrofacial dysostosis, nosologically related to the Genee-Wiedemann syndrome. Clinical and genetic aspects of this acrofacial dysostosis and its relationship to diabetic embryopathy are discussed.