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[A further case with Baller-Gerold syndrome (craniosynostosis--radial aplasia syndrome)--overview and new viewpoints on a rare syndrome].

作者信息

Reichenbach H, Hörmann D, Theile H

机构信息

Abteilung Humangenetik, Universitäts-Kinderklinik, Universität Leipzig.

出版信息

Kinderarztl Prax. 1993 Jun;61(4-5):161-7.

PMID:8361146
Abstract

The Baller-Gerold syndrome is a rare malformation syndrome with craniosynostosis. A radial defect is the main feature of this combination besides the premature craniosynostosis. The entity and the etiology of this inherited trait was often discussed in recent years. This syndrome is further characterised and presented as a distinct entity with the reported new case. Parents of such a child should be aware of the 25% recurrence risk in subsequent siblings because of an autosomal recessive mode of inheritance.

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