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Radial, renal and craniofacial anomalies: Baller-Gerold syndrome

Introduction

Baller [1] described a female with oxycephaly and absent radius whose parents were third cousins. Gerold [2] described a brother and sister, aged 16 years and two days, respectively with tower skull, radial aplasia and small ulna. The term Baller-Gerold syndrome was coined by Cohen [3] to designate the phenotype of craniostysnostosis and radial dysplasia. The Baller-Gerold Syndrome is a rare genetic disorder of which only 22 cases have been reported. [4] Although initially only craniosynostosis and preaxial upper limb defects were included, [5],[6] the phenotype outlined in later reviews [7],[8],[9] included growth deficiency, sudden infant death syndrome, a peculiar facial ...

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