A variant or a “new” postaxial acrofacial dysostosis syndrome
✍ Scribed by Jerzy Sułko; Dariusz Kotulski; Kazimierz Kozlowski
- Book ID
- 106121517
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 176 KB
- Volume
- 167
- Category
- Article
- ISSN
- 0340-6997
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📜 SIMILAR VOLUMES
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.
We report on a family in which a previously undescribed acrofacial dysostosis syndrome is segregating as an autosomal dominant trait. Craniofacial manifestations are those of mild mandibulofacial dysostosis and are quite constant among affected relatives. The acral abnormalities are quite variable,