[A further case with Baller-Gerold syndrome (craniosynostosis--radial aplasia syndrome)--overview and new viewpoints on a rare syndrome].
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.
Reichenbach
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H
Abteilung Humangenetik, Universitäts-Kinderklinik, Universität Leipzig.
Hörmann
D
D
Theile
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H
D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D011859:Radiography; D011884:Radius / Q000002:abnormalities*
Ein weiterer Fall mit Baller-Gerold-Syndrom (Craniosynostosis--Radial Aplasia Syndrome)--Uberblick und neue Gesichtspunkte bei einem seltenen Syndrom.