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New syndrome: Autosomal dominant microcephaly and radio-ulnar synostosis

✍ Scribed by Giuffrè, Liborio ;Corsello, Giovanni ;Giuffrè, Mario ;Piccione, Maria ;Albanese, Achille

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
295 KB
Volume
51
Category
Article
ISSN
0148-7299

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✍ Rizzo, Renata; Pavone, Vito; Corsello, Giovanni; Sorge, Giovanni; Neri, Giovanni 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 297 KB

We report on seven cases of congenital radio-ulnar synostosis (RUS). Five were found in the same family and two were sporadic. In six the synostosis was bilateral and consistently involved the proximal end of the radius and ulna. In the familial cases the anomaly was inherited as an autosomal domina