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Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: Probably a new syndrome

✍ Scribed by Valeria Capra; Patrizia De Marco; Elisa Merello; Ave Maria Baffico; Maurizia Baldi; Maria Teresa Divizia; Stefania Gimelli; Delphine Mallet; Alessandro Raso; Samantha Mascelli; Paolo Tomà; Andrea Rossi; Marco Pavanello; Armando Cama; Cinzia Magnani


Book ID
116433140
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
242 KB
Volume
52
Category
Article
ISSN
1769-7212

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Radioulnar synostosis, radial ray abnorm
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We describe a multiple congenital anomalies (MCA) syndrome dominantly transmitted through three generations. Radial ray abnormalities with wide variability of expression were observed in four female patients. Moreover, a 14-week-gestation male fetus had severe radial ray malformation, anencephaly, u