Abstract
The main features of Baller–Gerold syndrome are craniosynostosis and radial ray deficiency. In addition to radial deficiency, absent/malformed thumbs, fused/absent carpal bones, absent metacarpals and phalanges, oligodactyly of the feet, and short, curved ulna can be present. A peculiar facial appearance with micrognathia, downward slanting palpebral fissures, and malformed, low-set, and posteriorly rotated ears is recognized. Craniosynostosis of the coronal, metopic, and lambdoid sutures results in turribrachycephaly. Skeletal anomalies of the spine and pelvis as well as general growth retardation are frequent. Anteriorly placed anus and imperforate anus with either perineal fistula or rectovaginal fistula are further features. Anomalies of the heart and urogenital system and mental and/or motor retardation have been noted in some patients.
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Mundlos, S., Horn, D. (2014). Baller–Gerold Syndrome. In: Limb Malformations. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-95928-1_80
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DOI: https://doi.org/10.1007/978-3-540-95928-1_80
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