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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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Atypical postaxial acrofacial dysostosis
✍ Richieri-Costa, A. ;Guion-Almeida, M. L. 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 245 KB 👁 2 views

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.

A new autosomal dominant acrofacial dyso
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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,